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Allison Elizabeth Ashley-Koch

Professor in Medicine
Medicine, Nephrology
Duke Box 104775, Durham, NC 27701
300 N Duke St., Durham, NC 27701

Selected Publications


Demographic characteristics and epigenetic biological aging among post-9/11 veterans: Associations of DunedinPACE with sex, race, and age.

Journal Article Psychiatry Res · June 2024 Measures of epigenetic aging derived from DNA methylation (DNAm) have enabled the assessment of biological aging in new populations and cohorts. In the present study, we used an epigenetic measure of aging, DunedinPACE, to examine rates of aging across dem ... Full text Link to item Cite

Deployment-related toxic exposures are associated with worsening mental and physical health after military service: Results from a self-report screening of veterans deployed after 9/11.

Journal Article J Psychiatr Res · June 2024 Exposure to toxins-such as heavy metals and air pollution-can result in poor health and wellbeing. Recent scientific and media attention has highlighted negative health outcomes associated with toxic exposures for U.S. military personnel deployed overseas. ... Full text Link to item Cite

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.

Journal Article Nat Commun · May 24, 2024 Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry ... Full text Link to item Cite

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Journal Article Science · May 3, 2024 Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing ... Full text Link to item Cite

Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.

Journal Article Nat Genet · May 2024 Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry ... Full text Link to item Cite

Epigenetic Aging Associations With Psychoneurological Symptoms and Social Functioning in Adults With Sickle Cell Disease.

Journal Article Biol Res Nurs · April 28, 2024 Objective: Sickle cell disease (SCD), the most common inherited blood disorder in the United States, is associated with severe psychoneurological symptoms. While epigenetic age acceleration has been linked to psychoneurological symptom burden in other dise ... Full text Link to item Cite

Genome-wide DNA methylation analysis of cannabis use disorder in a veteran cohort enriched for posttraumatic stress disorder.

Journal Article Psychiatry Res · March 2024 Cannabis use has been increasing over the past decade, not only in the general US population, but particularly among military veterans. With this rise in use has come a concomitant increase in cannabis use disorder (CUD) among veterans. Here, we performed ... Full text Link to item Cite

Nontargeted Plasma Proteomic Analysis of Renal Disease and Pulmonary Hypertension in Patients with Sickle Cell Disease.

Journal Article J Proteome Res · March 1, 2024 Sickle cell disease (SCD) is characterized by red blood cell sickling, vaso-occlusion, hemolytic anemia, damage to multiple organ systems, and, as a result, shortened life expectancy. Sickle cell disease nephropathy (SCDN) and pulmonary hypertension (pHTN) ... Full text Link to item Cite

Potential causal association between gut microbiome and posttraumatic stress disorder.

Journal Article Transl Psychiatry · January 31, 2024 BACKGROUND: The causal effects of gut microbiome and the development of posttraumatic stress disorder (PTSD) are still unknown. This study aimed to clarify their potential causal association using mendelian randomization (MR). METHODS: The summary-level st ... Full text Open Access Link to item Cite

High dimensional predictions of suicide risk in 4.2 million US Veterans using ensemble transfer learning.

Journal Article Sci Rep · January 20, 2024 We present an ensemble transfer learning method to predict suicide from Veterans Affairs (VA) electronic medical records (EMR). A diverse set of base models was trained to predict a binary outcome constructed from reported suicide, suicide attempt, and ove ... Full text Link to item Cite

Characterizing epigenetic aging in an adult sickle cell disease cohort.

Journal Article Blood Adv · January 9, 2024 Sickle cell disease (SCD) affects ∼100 000 predominantly African American individuals in the United States, causing significant cellular damage, increased disease complications, and premature death. However, the contribution of epigenetic factors to SCD pa ... Full text Open Access Link to item Cite

Posttraumatic stress disorder, trauma, and accelerated biological aging among post-9/11 veterans.

Journal Article Transl Psychiatry · January 6, 2024 People who experience trauma and develop posttraumatic stress disorder (PTSD) are at increased risk for poor health. One mechanism that could explain this risk is accelerated biological aging, which is associated with the accumulation of chronic diseases, ... Full text Link to item Cite

Multivariate investigation of aging in mouse models expressing the Alzheimer's protective APOE2 allele: integrating cognitive metrics, brain imaging, and blood transcriptomics.

Journal Article Brain Struct Funct · January 2024 APOE allelic variation is critical in brain aging and Alzheimer's disease (AD). The APOE2 allele associated with cognitive resilience and neuroprotection against AD remains understudied. We employed a multipronged approach to characterize the transition fr ... Full text Link to item Cite

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.

Journal Article iScience · December 15, 2023 Metabolite genome-wide association studies (mGWAS) have advanced our understanding of the genetic control of metabolite levels. However, interpreting these associations remains challenging due to a lack of tools to annotate gene-metabolite pairs beyond the ... Full text Link to item Cite

Associations between Epigenetic Age Acceleration and Psychoneurological Symptoms in Sickle Cell Disease

Conference Blood · November 2, 2023 Introduction:Sickle cell disease (SCD) affects approximately 100,000 predominantly Black or African American individuals in the United States. The disease has several acute and chronic c ... Full text Cite

Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait.

Journal Article Clin J Am Soc Nephrol · November 1, 2023 BACKGROUND: Sickle cell trait affects approximately 8% of Black individuals in the United States, along with many other individuals with ancestry from malaria-endemic regions worldwide. While traditionally considered a benign condition, recent evidence sug ... Full text Link to item Cite

Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells.

Journal Article Hum Mol Genet · October 17, 2023 Pseudoexfoliation glaucoma (PEXG) is characterized by dysregulated extracellular matrix (ECM) homeostasis that disrupts conventional outflow function and increases intraocular pressure (IOP). Prolonged IOP elevation results in optic nerve head damage and v ... Full text Open Access Link to item Cite

Integrative single-nucleus multi-omics analysis prioritizes candidate cis and trans regulatory networks and their target genes in Alzheimer's disease brains.

Journal Article Cell Biosci · October 3, 2023 BACKGROUND: The genetic underpinnings of late-onset Alzheimer's disease (LOAD) are yet to be fully elucidated. Although numerous LOAD-associated loci have been discovered, the causal variants and their target genes remain largely unknown. Since the brain i ... Full text Link to item Cite

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.

Journal Article Am J Psychiatry · October 1, 2023 OBJECTIVE: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present stud ... Full text Open Access Link to item Cite

Demographic characteristics and epigenetic biological aging among post-9/11 veterans: Associations of DunedinPACE with sex, race, and age.

Journal Article Psychiatry Res · June 2024 Measures of epigenetic aging derived from DNA methylation (DNAm) have enabled the assessment of biological aging in new populations and cohorts. In the present study, we used an epigenetic measure of aging, DunedinPACE, to examine rates of aging across dem ... Full text Link to item Cite

Deployment-related toxic exposures are associated with worsening mental and physical health after military service: Results from a self-report screening of veterans deployed after 9/11.

Journal Article J Psychiatr Res · June 2024 Exposure to toxins-such as heavy metals and air pollution-can result in poor health and wellbeing. Recent scientific and media attention has highlighted negative health outcomes associated with toxic exposures for U.S. military personnel deployed overseas. ... Full text Link to item Cite

Validation of human telomere length multi-ancestry meta-analysis association signals identifies POP5 and KBTBD6 as human telomere length regulation genes.

Journal Article Nat Commun · May 24, 2024 Genome-wide association studies (GWAS) have become well-powered to detect loci associated with telomere length. However, no prior work has validated genes nominated by GWAS to examine their role in telomere length regulation. We conducted a multi-ancestry ... Full text Link to item Cite

Risk of meningomyelocele mediated by the common 22q11.2 deletion.

Journal Article Science · May 3, 2024 Meningomyelocele is one of the most severe forms of neural tube defects (NTDs) and the most frequent structural birth defect of the central nervous system. We assembled the Spina Bifida Sequencing Consortium to identify causes. Exome and genome sequencing ... Full text Link to item Cite

Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder.

Journal Article Nat Genet · May 2024 Post-traumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry ... Full text Link to item Cite

Epigenetic Aging Associations With Psychoneurological Symptoms and Social Functioning in Adults With Sickle Cell Disease.

Journal Article Biol Res Nurs · April 28, 2024 Objective: Sickle cell disease (SCD), the most common inherited blood disorder in the United States, is associated with severe psychoneurological symptoms. While epigenetic age acceleration has been linked to psychoneurological symptom burden in other dise ... Full text Link to item Cite

Genome-wide DNA methylation analysis of cannabis use disorder in a veteran cohort enriched for posttraumatic stress disorder.

Journal Article Psychiatry Res · March 2024 Cannabis use has been increasing over the past decade, not only in the general US population, but particularly among military veterans. With this rise in use has come a concomitant increase in cannabis use disorder (CUD) among veterans. Here, we performed ... Full text Link to item Cite

Nontargeted Plasma Proteomic Analysis of Renal Disease and Pulmonary Hypertension in Patients with Sickle Cell Disease.

Journal Article J Proteome Res · March 1, 2024 Sickle cell disease (SCD) is characterized by red blood cell sickling, vaso-occlusion, hemolytic anemia, damage to multiple organ systems, and, as a result, shortened life expectancy. Sickle cell disease nephropathy (SCDN) and pulmonary hypertension (pHTN) ... Full text Link to item Cite

Potential causal association between gut microbiome and posttraumatic stress disorder.

Journal Article Transl Psychiatry · January 31, 2024 BACKGROUND: The causal effects of gut microbiome and the development of posttraumatic stress disorder (PTSD) are still unknown. This study aimed to clarify their potential causal association using mendelian randomization (MR). METHODS: The summary-level st ... Full text Open Access Link to item Cite

High dimensional predictions of suicide risk in 4.2 million US Veterans using ensemble transfer learning.

Journal Article Sci Rep · January 20, 2024 We present an ensemble transfer learning method to predict suicide from Veterans Affairs (VA) electronic medical records (EMR). A diverse set of base models was trained to predict a binary outcome constructed from reported suicide, suicide attempt, and ove ... Full text Link to item Cite

Characterizing epigenetic aging in an adult sickle cell disease cohort.

Journal Article Blood Adv · January 9, 2024 Sickle cell disease (SCD) affects ∼100 000 predominantly African American individuals in the United States, causing significant cellular damage, increased disease complications, and premature death. However, the contribution of epigenetic factors to SCD pa ... Full text Open Access Link to item Cite

Posttraumatic stress disorder, trauma, and accelerated biological aging among post-9/11 veterans.

Journal Article Transl Psychiatry · January 6, 2024 People who experience trauma and develop posttraumatic stress disorder (PTSD) are at increased risk for poor health. One mechanism that could explain this risk is accelerated biological aging, which is associated with the accumulation of chronic diseases, ... Full text Link to item Cite

Multivariate investigation of aging in mouse models expressing the Alzheimer's protective APOE2 allele: integrating cognitive metrics, brain imaging, and blood transcriptomics.

Journal Article Brain Struct Funct · January 2024 APOE allelic variation is critical in brain aging and Alzheimer's disease (AD). The APOE2 allele associated with cognitive resilience and neuroprotection against AD remains understudied. We employed a multipronged approach to characterize the transition fr ... Full text Link to item Cite

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.

Journal Article iScience · December 15, 2023 Metabolite genome-wide association studies (mGWAS) have advanced our understanding of the genetic control of metabolite levels. However, interpreting these associations remains challenging due to a lack of tools to annotate gene-metabolite pairs beyond the ... Full text Link to item Cite

Associations between Epigenetic Age Acceleration and Psychoneurological Symptoms in Sickle Cell Disease

Conference Blood · November 2, 2023 Introduction:Sickle cell disease (SCD) affects approximately 100,000 predominantly Black or African American individuals in the United States. The disease has several acute and chronic c ... Full text Cite

Differences in the Circulating Proteome in Individuals with versus without Sickle Cell Trait.

Journal Article Clin J Am Soc Nephrol · November 1, 2023 BACKGROUND: Sickle cell trait affects approximately 8% of Black individuals in the United States, along with many other individuals with ancestry from malaria-endemic regions worldwide. While traditionally considered a benign condition, recent evidence sug ... Full text Link to item Cite

Lysyl oxidase-like 1-antisense 1 (LOXL1-AS1) lncRNA differentially regulates gene and protein expression, signaling and morphology of human ocular cells.

Journal Article Hum Mol Genet · October 17, 2023 Pseudoexfoliation glaucoma (PEXG) is characterized by dysregulated extracellular matrix (ECM) homeostasis that disrupts conventional outflow function and increases intraocular pressure (IOP). Prolonged IOP elevation results in optic nerve head damage and v ... Full text Open Access Link to item Cite

Integrative single-nucleus multi-omics analysis prioritizes candidate cis and trans regulatory networks and their target genes in Alzheimer's disease brains.

Journal Article Cell Biosci · October 3, 2023 BACKGROUND: The genetic underpinnings of late-onset Alzheimer's disease (LOAD) are yet to be fully elucidated. Although numerous LOAD-associated loci have been discovered, the causal variants and their target genes remain largely unknown. Since the brain i ... Full text Link to item Cite

GWAS Meta-Analysis of Suicide Attempt: Identification of 12 Genome-Wide Significant Loci and Implication of Genetic Risks for Specific Health Factors.

Journal Article Am J Psychiatry · October 1, 2023 OBJECTIVE: Suicidal behavior is heritable and is a major cause of death worldwide. Two large-scale genome-wide association studies (GWASs) recently discovered and cross-validated genome-wide significant (GWS) loci for suicide attempt (SA). The present stud ... Full text Open Access Link to item Cite

PROGRESS AND PROMISE OF NEUROGENETICS METHODS TO STUDY PTSD

Conference European Neuropsychopharmacology · October 2023 Full text Cite

Polarized Desmosome and Hemidesmosome Shedding via Small Extracellular Vesicles is an Early Indicator of Outer Blood-Retina Barrier Dysfunction.

Journal Article J Extracell Biol · October 2023 The retinal pigmented epithelium (RPE) constitutes the outer blood-retinal barrier, enables photoreceptor function of the eye, and is constantly exposed to oxidative stress. As such, dysfunction of the RPE underlies pathology leading to development of age- ... Full text Link to item Cite

Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy.

Journal Article Blood Adv · September 12, 2023 Sickle cell disease nephropathy (SCDN), a common SCD complication, is strongly associated with mortality. Polygenic risk scores calculated from recent transethnic meta-analyses of urinary albumin-to-creatinine ratio and estimated glomerular filtration rate ... Full text Link to item Cite

Discovery of 95 PTSD loci provides insight into genetic architecture and neurobiology of trauma and stress-related disorders.

Journal Article medRxiv · September 2, 2023 Posttraumatic stress disorder (PTSD) genetics are characterized by lower discoverability than most other psychiatric disorders. The contribution to biological understanding from previous genetic studies has thus been limited. We performed a multi-ancestry ... Full text Link to item Cite

Epigenome-wide DNA methylation association study of circulating IgE levels identifies novel targets for asthma.

Journal Article EBioMedicine · September 2023 BACKGROUND: Identifying novel epigenetic signatures associated with serum immunoglobulin E (IgE) may improve our understanding of molecular mechanisms underlying asthma and IgE-mediated diseases. METHODS: We performed an epigenome-wide association study us ... Full text Link to item Cite

WHOLE GENOME SEQUENCING ANALYSIS OF BODY MASS INDEX IDENTIFIES NOVEL AFRICAN ANCESTRY-SPECIFIC RISK ALLELE.

Journal Article medRxiv · August 22, 2023 Obesity is a major public health crisis associated with high mortality rates. Previous genome-wide association studies (GWAS) investigating body mass index (BMI) have largely relied on imputed data from European individuals. This study leveraged whole-geno ... Full text Link to item Cite

Polarized Desmosome and Hemidesmosome Shedding via Exosomes is an Early Indicator of Outer Blood-Retina Barrier Dysfunction.

Journal Article bioRxiv · June 13, 2023 The retinal pigmented epithelium (RPE) constitutes the outer blood-retinal barrier, enables photoreceptor function of the eye, and is constantly exposed to oxidative stress. As such, dysfunction of the RPE underlies pathology leading to development of age- ... Full text Link to item Cite

Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis.

Journal Article Nature · April 2023 Mutations in a diverse set of driver genes increase the fitness of haematopoietic stem cells (HSCs), leading to clonal haematopoiesis1. These lesions are precursors for blood cancers2-6, but the basis of their fitness advantage remains largely unknown, par ... Full text Link to item Cite

Clonal haematopoiesis and risk of chronic liver disease.

Journal Article Nature · April 2023 Chronic liver disease is a major public health burden worldwide1. Although different aetiologies and mechanisms of liver injury exist, progression of chronic liver disease follows a common pathway of liver inflammation, injury and fibrosis2. Here we examin ... Full text Link to item Cite

Genetic regulation of fetal hemoglobin across global populations.

Journal Article medRxiv · March 28, 2023 Human genetic variation has enabled the identification of several key regulators of fetal-to-adult hemoglobin switching, including BCL11A, resulting in therapeutic advances. However, despite the progress made, limited further insights have been obtained to ... Full text Link to item Cite

Gene-metabolite annotation with shortest reactional distance enhances metabolite genome-wide association studies results.

Journal Article bioRxiv · March 24, 2023 Studies combining metabolomics and genetics, known as metabolite genome-wide association studies (mGWAS), have provided valuable insights into our understanding of the genetic control of metabolite levels. However, the biological interpretation of these as ... Full text Link to item Cite

Variation and impact of polygenic hematologic traits in monogenic sickle cell disease.

Journal Article Haematologica · March 1, 2023 Several of the complications observed in sickle cell disease (SCD) are influenced by variation in hematologic traits (HT), such as fetal hemoglobin (HbF) level and neutrophil count. Previous large-scale genome-wide association studies carried out in largel ... Full text Link to item Cite

Genome-wide association study identifies four pan-ancestry loci for suicidal ideation in the Million Veteran Program.

Journal Article PLoS Genet · March 2023 Suicidal ideation (SI) often precedes and predicts suicide attempt and death, is the most common suicidal phenotype and is over-represented in veterans. The genetic architecture of SI in the absence of suicide attempt (SA) is unknown, yet believed to have ... Full text Link to item Cite

The Relationship of Attention-Deficit/Hyperactivity Disorder With Posttraumatic Stress Disorder: A Two-Sample Mendelian Randomization and Population-Based Sibling Comparison Study.

Journal Article Biol Psychiatry · February 15, 2023 BACKGROUND: Attention-deficit/hyperactivity disorder (ADHD) and posttraumatic stress disorder (PTSD) are associated, but it is unclear if this is a causal relationship or confounding. We used genetic analyses and sibling comparisons to clarify the directio ... Full text Open Access Link to item Cite

Structural variation across 138,134 samples in the TOPMed consortium.

Journal Article Res Sq · February 3, 2023 Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a bala ... Full text Link to item Cite

Evaluating Associations between Average Pain Intensity and Genetic Variation in People with Sickle Cell Disease: An Exploratory Study.

Journal Article Pain Manag Nurs · February 2023 BACKGROUND: Pain is one of the most common and deleterious symptoms experienced by individuals with sickle cell disease (SCD). There is a paucity of studies identifying potential genetic mechanisms of pain in this population. AIM: Examine associations betw ... Full text Link to item Cite

Identification of Novel, Replicable Genetic Risk Loci for Suicidal Thoughts and Behaviors Among US Military Veterans.

Journal Article JAMA psychiatry · February 2023 ImportanceSuicide is a leading cause of death; however, the molecular genetic basis of suicidal thoughts and behaviors (SITB) remains unknown.ObjectiveTo identify novel, replicable genomic risk loci for SITB.Design, setting, and parti ... Full text Cite

Impact of traumatic life events and polygenic risk scores for major depression and posttraumatic stress disorder on Iraq/Afghanistan Veterans.

Journal Article J Psychiatr Res · February 2023 Traumatic experiences and genetic heritability are among the most widely acknowledged risk factors leading to the development of psychopathology; including posttraumatic stress disorder (PTSD) and major depressive disorder (MDD). The purpose of this study ... Full text Link to item Cite

Multi-ancestry transcriptome-wide association analyses yield insights into tobacco use biology and drug repurposing.

Journal Article Nat Genet · February 2023 Most transcriptome-wide association studies (TWASs) so far focus on European ancestry and lack diversity. To overcome this limitation, we aggregated genome-wide association study (GWAS) summary statistics, whole-genome sequences and expression quantitative ... Full text Link to item Cite

Structural variation across 138,134 samples in the TOPMed consortium.

Journal Article bioRxiv · January 25, 2023 Ever larger Structural Variant (SV) catalogs highlighting the diversity within and between populations help researchers better understand the links between SVs and disease. The identification of SVs from DNA sequence data is non-trivial and requires a bala ... Full text Link to item Cite

Powerful, scalable and resource-efficient meta-analysis of rare variant associations in large whole genome sequencing studies.

Journal Article Nat Genet · January 2023 Meta-analysis of whole genome sequencing/whole exome sequencing (WGS/WES) studies provides an attractive solution to the problem of collecting large sample sizes for discovering rare variants associated with complex phenotypes. Existing rare variant meta-a ... Full text Open Access Link to item Cite

Large epigenome-wide association study identifies multiple novel differentially methylated CpG sites associated with suicidal thoughts and behaviors in veterans.

Journal Article Front Psychiatry · 2023 INTRODUCTION: The U.S. suicide mortality rate has steadily increased during the past two decades, particularly among military veterans; however, the epigenetic basis of suicidal thoughts and behaviors (STB) remains largely unknown. METHODS: To address this ... Full text Open Access Link to item Cite

Gene-nutrient interactions that impact magnesium homeostasis increase risk for neural tube defects in mice exposed to dolutegravir.

Journal Article Front Cell Dev Biol · 2023 In 2018, data from a surveillance study in Botswana evaluating adverse birth outcomes raised concerns that women on antiretroviral therapy (ART) containing dolutegravir (DTG) may be at increased risk for neural tube defects (NTDs). The mechanism of action ... Full text Open Access Link to item Cite

Psychological trauma and the genetic overlap between posttraumatic stress disorder and major depressive disorder

Journal Article Psychological Medicine · December 4, 2022 Background. Posttraumatic stress disorder (PTSD) and major depressive disorder (MDD) are commonly reported co-occurring mental health consequences of psychological trauma exposure. The disorders have high genetic overlap. Trauma is a complex phenotype but ... Full text Cite

Genetic Modifiers of Sickle Cell Disease.

Journal Article Hematol Oncol Clin North Am · December 2022 Sickle cell disease (SCD) is characterized by tremendous phenotypic heterogeneity across patients, but this clinical variability is poorly understood, thus motivating the search for genetic modifiers. The early identification of genetic variants that contr ... Full text Link to item Cite

A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies.

Journal Article Nat Methods · December 2022 Large-scale whole-genome sequencing studies have enabled analysis of noncoding rare-variant (RV) associations with complex human diseases and traits. Variant-set analysis is a powerful approach to study RV association. However, existing methods have limite ... Full text Open Access Link to item Cite

Rare genetic variants explain missing heritability in smoking.

Journal Article Nat Hum Behav · November 2022 Common genetic variants explain less variation in complex phenotypes than inferred from family-based studies, and there is a debate on the source of this 'missing heritability'. We investigated the contribution of rare genetic variants to tobacco use with ... Full text Link to item Cite

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.

Journal Article EBioMedicine · November 2022 BACKGROUND: Essential tremor (ET), one of the most common neurological disorders, has a phenotypically heterogeneous presentation characterized by bilateral kinetic tremor of the arms and, in some patients, tremor involving other body regions (e.g., head, ... Full text Link to item Cite

Whole genome sequence analysis of blood lipid levels in >66,000 individuals.

Journal Article Nat Commun · October 11, 2022 Blood lipids are heritable modifiable causal factors for coronary artery disease. Despite well-described monogenic and polygenic bases of dyslipidemia, limitations remain in discovery of lipid-associated alleles using whole genome sequencing (WGS), partly ... Full text Open Access Link to item Cite

Whole Genome Association Study of the Plasma Metabolome Identifies Metabolites Linked to Cardiometabolic Disease in Black Individuals.

Journal Article Nat Commun · August 22, 2022 Integrating genetic information with metabolomics has provided new insights into genes affecting human metabolism. However, gene-metabolite integration has been primarily studied in individuals of European Ancestry, limiting the opportunity to leverage gen ... Full text Link to item Cite

Longitudinal study of glomerular hyperfiltration in adults with sickle cell anemia: a multicenter pooled analysis.

Journal Article Blood Adv · August 9, 2022 Glomerular hyperfiltration is common in young sickle cell anemia patients and precedes development of overt kidney disease. In this multicenter pooled cohort, we characterized hyperfiltration and its decline to normal range in adult patients. Glomerular fi ... Full text Link to item Cite

Alcohol use and alcohol use disorder differ in their genetic relationships with PTSD: A genomic structural equation modelling approach.

Journal Article Drug Alcohol Depend · May 1, 2022 PURPOSE: Posttraumatic Stress Disorder (PTSD) is associated with increased alcohol use and alcohol use disorder (AUD), which are all moderately heritable. Studies suggest the genetic association between PTSD and alcohol use differs from that of PTSD and AU ... Full text Link to item Cite

Enhancing Discovery of Genetic Variants for Posttraumatic Stress Disorder Through Integration of Quantitative Phenotypes and Trauma Exposure Information.

Journal Article Biol Psychiatry · April 1, 2022 BACKGROUND: Posttraumatic stress disorder (PTSD) is heritable and a potential consequence of exposure to traumatic stress. Evidence suggests that a quantitative approach to PTSD phenotype measurement and incorporation of lifetime trauma exposure (LTE) info ... Full text Link to item Cite

A genome-wide association study of suicide attempts in the million veterans program identifies evidence of pan-ancestry and ancestry-specific risk loci.

Journal Article Mol Psychiatry · April 2022 To identify pan-ancestry and ancestry-specific loci associated with attempting suicide among veterans, we conducted a genome-wide association study (GWAS) of suicide attempts within a large, multi-ancestry cohort of U.S. veterans enrolled in the Million Ve ... Full text Link to item Cite

Mapping genomic loci implicates genes and synaptic biology in schizophrenia.

Journal Article Nature · April 2022 Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common variant a ... Full text Link to item Cite

Assessing the contribution of rare variants to complex trait heritability from whole-genome sequence data.

Journal Article Nat Genet · March 2022 Analyses of data from genome-wide association studies on unrelated individuals have shown that, for human traits and diseases, approximately one-third to two-thirds of heritability is captured by common SNPs. However, it is not known whether the remaining ... Full text Link to item Cite

Clonal hematopoiesis in sickle cell disease.

Journal Article J Clin Invest · February 15, 2022 BACKGROUNDCurative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. The occurrence of myeloid malignancies in these trials has prompted safety concerns. Individuals with SCD are predisposed to myeloid malignancies, ... Full text Link to item Cite

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors.

Journal Article Biol Psychiatry · February 1, 2022 BACKGROUND: Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared an ... Full text Link to item Cite

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed.

Journal Article Cell Genom · January 12, 2022 Genetic studies on telomere length are important for understanding age-related diseases. Prior GWAS for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally ... Full text Link to item Cite

Trauma and posttraumatic stress disorder modulate polygenic predictors of hippocampal and amygdala volume.

Journal Article Transl Psychiatry · December 16, 2021 The volume of subcortical structures represents a reliable, quantitative, and objective phenotype that captures genetic effects, environmental effects such as trauma, and disease effects such as posttraumatic stress disorder (PTSD). Trauma and PTSD represe ... Full text Link to item Cite

Parallel single-nucleus chromatin accessibility and transcriptomic profiling of human late-onset Alzheimer's disease brains

Journal Article Alzheimer's & dementia : the journal of the Alzheimer's Association · December 1, 2021 BACKGROUND: In the post-GWAS era for late-onset Alzheimer's disease (LOAD), the precise disease-causing genes, the specific causal variants, and molecular mechanisms mediating their pathogenic effects remain unknown. Recent studies using single-nucleus (sn ... Full text Cite

A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response.

Journal Article Nat Genet · October 2021 Fine-mapping to plausible causal variation may be more effective in multi-ancestry cohorts, particularly in the MHC, which has population-specific structure. To enable such studies, we constructed a large (n = 21,546) HLA reference panel spanning five glob ... Full text Link to item Cite

Whole-genome association analyses of sleep-disordered breathing phenotypes in the NHLBI TOPMed program.

Journal Article Genome Med · August 26, 2021 BACKGROUND: Sleep-disordered breathing is a common disorder associated with significant morbidity. The genetic architecture of sleep-disordered breathing remains poorly understood. Through the NHLBI Trans-Omics for Precision Medicine (TOPMed) program, we p ... Full text Link to item Cite

Sex dependent glial-specific changes in the chromatin accessibility landscape in late-onset Alzheimer's disease brains.

Journal Article Mol Neurodegener · August 24, 2021 BACKGROUND: In the post-GWAS era, there is an unmet need to decode the underpinning genetic etiologies of late-onset Alzheimer's disease (LOAD) and translate the associations to causation. METHODS: We conducted ATAC-seq profiling using NeuN sorted-nuclei f ... Full text Link to item Cite

Cell-type-specific effects of genetic variation on chromatin accessibility during human neuronal differentiation.

Journal Article Nat Neurosci · July 2021 Common genetic risk for neuropsychiatric disorders is enriched in regulatory elements active during cortical neurogenesis. However, it remains poorly understood as to how these variants influence gene regulation. To model the functional impact of common ge ... Full text Link to item Cite

Neuronal and glial 3D chromatin architecture informs the cellular etiology of brain disorders.

Journal Article Nat Commun · June 25, 2021 Cellular heterogeneity in the human brain obscures the identification of robust cellular regulatory networks, which is necessary to understand the function of non-coding elements and the impact of non-coding genetic variation. Here we integrate genome-wide ... Full text Link to item Cite

Genome sequencing unveils a regulatory landscape of platelet reactivity.

Journal Article Nat Commun · June 15, 2021 Platelet aggregation at the site of atherosclerotic vascular injury is the underlying pathophysiology of myocardial infarction and stroke. To build upon prior GWAS, here we report on 16 loci identified through a whole genome sequencing (WGS) approach in 3, ... Full text Link to item Cite

Variant-specific inflation factors for assessing population stratification at the phenotypic variance level.

Journal Article Nat Commun · June 9, 2021 In modern Whole Genome Sequencing (WGS) epidemiological studies, participant-level data from multiple studies are often pooled and results are obtained from a single analysis. We consider the impact of differential phenotype variances by study, which we te ... Full text Link to item Cite

Genetic and non-genetic factors affecting the expression of COVID-19-relevant genes in the large airway epithelium.

Journal Article Genome Med · April 21, 2021 BACKGROUND: The large airway epithelial barrier provides one of the first lines of defense against respiratory viruses, including SARS-CoV-2 that causes COVID-19. Substantial inter-individual variability in individual disease courses is hypothesized to be ... Full text Link to item Cite

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices.

Journal Article Nat Commun · April 12, 2021 Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid data in a high-cov ... Full text Link to item Cite

Sex and Menopause Modify the Effect of Single Nucleotide Polymorphism Genotypes on Fibrosis in NAFLD.

Journal Article Hepatol Commun · April 2021 The development of fibrosis in nonalcoholic fatty liver disease (NAFLD) is influenced by genetics, sex, and menopausal status, but whether genetic susceptibility to fibrosis is influenced by sex and reproductive status is unclear. Our aim was to identify m ... Full text Link to item Cite

Human myelomeningocele risk and ultra-rare deleterious variants in genes associated with cilium, WNT-signaling, ECM, cytoskeleton and cell migration.

Journal Article Sci Rep · February 11, 2021 Myelomeningocele (MMC) affects one in 1000 newborns annually worldwide and each surviving child faces tremendous lifetime medical and caregiving burdens. Both genetic and environmental factors contribute to disease risk but the mechanism is unclear. This s ... Full text Link to item Cite

Potential causal role of l-glutamine in sickle cell disease painful crises: A Mendelian randomization analysis.

Journal Article Blood Cells Mol Dis · February 2021 In a recent clinical trial, the metabolite l-glutamine was shown to reduce painful crises in sickle cell disease (SCD) patients. To support this observation and identify other metabolites implicated in SCD clinical heterogeneity, we profiled 129 metabolite ... Full text Link to item Cite

Diversity of variant alleles encoding Kidd, Duffy, and Kell antigens in individuals with sickle cell disease using whole genome sequencing data from the NHLBI TOPMed Program.

Journal Article Transfusion · February 2021 BACKGROUND: Genetic variants in the SLC14A1, ACKR1, and KEL genes, which encode Kidd, Duffy, and Kell red blood cell antigens, respectively, may result in weakened expression of antigens or a null phenotype. These variants are of particular interest to ind ... Full text Link to item Cite

Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

Journal Article Nature · February 2021 The Trans-Omics for Precision Medicine (TOPMed) programme seeks to elucidate the genetic architecture and biology of heart, lung, blood and sleep disorders, with the ultimate goal of improving diagnosis, treatment and prevention of these diseases. The init ... Full text Link to item Cite

Rare and de novo coding variants in chromodomain genes in Chiari I malformation.

Journal Article Am J Hum Genet · January 7, 2021 Chiari I malformation (CM1), the displacement of the cerebellum through the foramen magnum into the spinal canal, is one of the most common pediatric neurological conditions. Individuals with CM1 can present with neurological symptoms, including severe hea ... Full text Link to item Cite

Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1.

Journal Article PLoS One · 2021 Chiari Malformation Type 1 (CM-1) is characterized by herniation of the cerebellar tonsils below the foramen magnum and the presence of headaches and other neurologic symptoms. Cranial bone constriction is suspected to be the most common biologic mechanism ... Full text Link to item Cite

Clonal hematopoiesis in sickle cell disease

Journal Article · 2021 Curative gene therapies for sickle cell disease (SCD) are currently undergoing clinical evaluation. However, the occurrence of several myeloid malignancy cases in these trials has prompted safety concerns. Individuals with SCD are predisposed to myeloid ma ... Full text Cite

Examining Individual and Synergistic Contributions of PTSD and Genetics to Blood Pressure: A Trans-Ethnic Meta-Analysis.

Journal Article Front Neurosci · 2021 Growing research suggests that posttraumatic stress disorder (PTSD) may be a risk factor for poor cardiovascular health, and yet our understanding of who might be at greatest risk of adverse cardiovascular outcomes after trauma is limited. In this study, w ... Full text Link to item Cite

Gene Expression Analysis in Three Posttraumatic Stress Disorder Cohorts Implicates Inflammation and Innate Immunity Pathways and Uncovers Shared Genetic Risk With Major Depressive Disorder.

Journal Article Front Neurosci · 2021 Posttraumatic stress disorder (PTSD) is a complex psychiatric disorder that can develop following exposure to traumatic events. The Psychiatric Genomics Consortium PTSD group (PGC-PTSD) has collected over 20,000 multi-ethnic PTSD cases and controls and has ... Full text Open Access Link to item Cite

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease.

Journal Article Nat Commun · December 18, 2020 Pharmaceutical drugs targeting dyslipidemia and cardiovascular disease (CVD) may increase the risk of fatty liver disease and other metabolic disorders. To identify potential novel CVD drug targets without these adverse effects, we perform genome-wide anal ... Full text Link to item Cite

Epigenome-wide meta-analysis of PTSD across 10 military and civilian cohorts identifies methylation changes in AHRR.

Journal Article Nat Commun · November 24, 2020 Epigenetic differences may help to distinguish between PTSD cases and trauma-exposed controls. Here, we describe the results of the largest DNA methylation meta-analysis of PTSD to date. Ten cohorts, military and civilian, contribute blood-derived DNA meth ... Full text Link to item Cite

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia.

Journal Article Nat Commun · November 19, 2020 The neuronal primary cilium and centriolar satellites have functions in neurogenesis, but little is known about their roles in the postnatal brain. We show that ablation of pericentriolar material 1 in the mouse leads to progressive ciliary, anatomical, ps ... Full text Link to item Cite

Genome Wide Association Analysis of Iron Overload in the Trans-Omics for Precision Medicine (TOPMed) Sickle Cell Disease Cohorts

Conference Blood · November 5, 2020 Introduction: Transfusional iron (Fe) overload is a significant problem among patients with chronic, transfusion-dependent anemias. Iron overload is an important problem in pediatric sickle cell disease (SCD) patients on chronic transfusion regimen ... Full text Cite

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one-carbon metabolism networks.

Journal Article Mol Genet Genomic Med · November 2020 BACKGROUND: Neural tube defects (NTDs) are the second most common complex birth defect, yet, our understanding of the genetic contribution to their development remains incomplete. Two environmental factors associated with NTDs are Folate and One Carbon Met ... Full text Link to item Cite

Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

Journal Article Nature · October 2020 Age is the dominant risk factor for most chronic human diseases, but the mechanisms through which ageing confers this risk are largely unknown1. The age-related acquisition of somatic mutations that lead to clonal expansion in regenerating haematopoietic s ... Full text Link to item Cite

Genetic correlations and genome-wide associations of cortical structure in general population samples of 22,824 adults.

Journal Article Nat Commun · September 22, 2020 Cortical thickness, surface area and volumes vary with age and cognitive function, and in neurological and psychiatric diseases. Here we report heritability, genetic correlations and genome-wide associations of these cortical measures across the whole cort ... Full text Link to item Cite

Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale.

Journal Article Nat Genet · September 2020 Large-scale whole-genome sequencing studies have enabled the analysis of rare variants (RVs) associated with complex phenotypes. Commonly used RV association tests have limited scope to leverage variant functions. We propose STAAR (variant-set test for ass ... Full text Link to item Cite

Genetic predictors of hippocampal subfield volume in PTSD cases and trauma-exposed controls.

Journal Article Eur J Psychotraumatol · July 29, 2020 Behavioural, structural, and functional neuroimaging have implicated the hippocampus as a critical brain region in posttraumatic stress disorder (PTSD) pathogenesis. Recent work in a normative, primarily European, sample identified 15 unique genetic loci c ... Full text Link to item Cite

Genome-wide screen to identify genetic loci associated with cognitive decline in late-life depression.

Journal Article Int Psychogeriatr · July 9, 2020 OBJECTIVE: This study sought to conduct a comprehensive search for genetic risk of cognitive decline in the context of geriatric depression. DESIGN: A genome-wide association study (GWAS) analysis in the Neurocognitive Outcomes of Depression in the Elderly ... Full text Link to item Cite

Genetic variation in dopamine neurotransmission and motor development of infants born extremely-low-birthweight.

Journal Article Dev Med Child Neurol · June 2020 AIM: To determine if genetic variation associated with decreased dopamine neurotransmission predicts a decrease in motor development in a convenience cohort study of infants born extremely-low-birthweight (ELBW). METHOD: Four hundred and ninety-eight infan ... Full text Link to item Cite

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Journal Article Nat Commun · April 1, 2020 An amendment to this paper has been published and can be accessed via a link at the top of the paper. ... Full text Link to item Cite

The genetic architecture of the human cerebral cortex.

Journal Article Science · March 20, 2020 The cerebral cortex underlies our complex cognitive capabilities, yet little is known about the specific genetic loci that influence human cortical structure. To identify genetic variants that affect cortical structure, we conducted a genome-wide associati ... Full text Open Access Link to item Cite

An epigenome-wide association study of posttraumatic stress disorder in US veterans implicates several new DNA methylation loci.

Journal Article Clin Epigenetics · March 14, 2020 BACKGROUND: Previous studies using candidate gene and genome-wide approaches have identified epigenetic changes in DNA methylation (DNAm) associated with posttraumatic stress disorder (PTSD). METHODS: In this study, we performed an EWAS of PTSD in a cohort ... Full text Open Access Link to item Cite

Serum albumin is independently associated with higher mortality in adult sickle cell patients: Results of three independent cohorts.

Journal Article PLoS One · 2020 Sickle cell disease (SCD) impacts liver and kidney function as well as skin integrity. These complications, as well as the hyperinflammatory state of SCD, could affect serum albumin. Serum albumin has key roles in antioxidant, anti-inflammatory and antithr ... Full text Link to item Cite

Genetics of the chiari I and II malformations

Chapter · January 1, 2020 Chiari malformations are considered to have a multifactorial etiology, likely influenced by environmental and genetic factors. This chapter will detail the evidence that supports a genetic contribution to the disorder, including discussions of twin studies ... Full text Cite

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients.

Journal Article PLoS One · 2020 Genes in the noncanonical WNT signaling pathway controlling planar cell polarity have been linked to the neural tube defect myelomeningocele. We hypothesized that some genes in the WNT signaling network have a higher mutational burden in myelomeningocele s ... Full text Link to item Cite

Development of Common Data Elements for Use in Chiari Malformation Type I Clinical Research: An NIH/NINDS Project.

Journal Article Neurosurgery · December 1, 2019 The management of Chiari I malformation (CMI) is controversial because treatment methods vary and treatment decisions rest on incomplete understanding of its complex symptom patterns, etiologies, and natural history. Validity of studies that attempt to com ... Full text Link to item Cite

Whole Genome Sequencing Identifies CRISPLD2 as a Lung Function Gene in Children With Asthma.

Conference Chest · December 2019 BACKGROUND: Asthma is a common respiratory disorder with a highly heterogeneous nature that remains poorly understood. The objective was to use whole genome sequencing (WGS) data to identify regions of common genetic variation contributing to lung function ... Full text Link to item Cite

A Genocentric Approach to Discovery of Mendelian Disorders.

Journal Article Am J Hum Genet · November 7, 2019 The advent of inexpensive, clinical exome sequencing (ES) has led to the accumulation of genetic data from thousands of samples from individuals affected with a wide range of diseases, but for whom the underlying genetic and molecular etiology of their cli ... Full text Open Access Link to item Cite

Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry.

Journal Article JAMA · November 5, 2019 IMPORTANCE: Primary open-angle glaucoma presents with increased prevalence and a higher degree of clinical severity in populations of African ancestry compared with European or Asian ancestry. Despite this, individuals of African ancestry remain understudi ... Full text Link to item Cite

International meta-analysis of PTSD genome-wide association studies identifies sex- and ancestry-specific genetic risk loci.

Journal Article Nat Commun · October 8, 2019 The risk of posttraumatic stress disorder (PTSD) following trauma is heritable, but robust common variants have yet to be identified. In a multi-ethnic cohort including over 30,000 PTSD cases and 170,000 controls we conduct a genome-wide association study ... Full text Open Access Link to item Cite

The TFAP2A-IRF6-GRHL3 genetic pathway is conserved in neurulation.

Journal Article Hum Mol Genet · May 15, 2019 Mutations in IRF6, TFAP2A and GRHL3 cause orofacial clefting syndromes in humans. However, Tfap2a and Grhl3 are also required for neurulation in mice. Here, we found that homeostasis of Irf6 is also required for development of the neural tube and associate ... Full text Link to item Cite

Association of Economic Status and Educational Attainment With Posttraumatic Stress Disorder: A Mendelian Randomization Study.

Journal Article JAMA Netw Open · May 3, 2019 IMPORTANCE: There is a well-established negative association of educational attainment (EA) and other traits related to cognitive ability with posttraumatic stress disorder (PTSD), but the underlying mechanisms are poorly understood. OBJECTIVES: To investi ... Full text Link to item Cite

RNA sequencing of isolated cell populations expressing human APOL1 G2 risk variant reveals molecular correlates of sickle cell nephropathy in zebrafish podocytes.

Conference PLoS One · 2019 Kidney failure occurs in 5-13% of individuals with sickle cell disease and is associated with early mortality. Two APOL1 alleles (G1 and G2) have been identified as risk factors for sickle cell disease nephropathy. Both risk alleles are prevalent in indivi ... Full text Link to item Cite

Integrative functional genomic analysis of human brain development and neuropsychiatric risks.

Journal Article Science · December 14, 2018 To broaden our understanding of human neurodevelopment, we profiled transcriptomic and epigenomic landscapes across brain regions and/or cell types for the entire span of prenatal and postnatal development. Integrative analysis revealed temporal, regional, ... Full text Link to item Cite

Clinical and metabolomic risk factors associated with rapid renal function decline in sickle cell disease.

Journal Article Am J Hematol · December 2018 Sickle cell disease (SCD) nephropathy and lower estimated glomerular filtration rate (eGFR) are risk factors for early mortality. Furthermore, rate of eGFR decline predicts progression to end-stage renal disease in many clinical settings. However, factors ... Full text Link to item Cite

A genome-wide association study of suicide attempts and suicidal ideation in U.S. military veterans.

Journal Article Psychiatry Res · November 2018 Death by suicide and suicidal behavior are major concerns among U.S. military veterans; however, no genome-wide association studies (GWAS) studies of suicidal behavior have been conducted among U.S. military veterans to date, despite the elevated rate of s ... Full text Link to item Cite

Publisher Correction: Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Journal Article Nat Commun · August 23, 2018 The original version of this article contained an error in the name of the author Ramachandran S. Vasan, which was incorrectly given as Vasan S. Ramachandran. This has now been corrected in both the PDF and HTML versions of the article. ... Full text Link to item Cite

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals.

Journal Article Nat Commun · August 23, 2018 Large-scale deep-coverage whole-genome sequencing (WGS) is now feasible and offers potential advantages for locus discovery. We perform WGS in 16,324 participants from four ancestries at mean depth >29X and analyze genotypes with four quantitative traits-p ... Full text Link to item Cite

Evaluation of chromatin accessibility in prefrontal cortex of individuals with schizophrenia.

Journal Article Nat Commun · August 7, 2018 Schizophrenia genome-wide association studies have identified >150 regions of the genome associated with disease risk, yet there is little evidence that coding mutations contribute to this disorder. To explore the mechanism of non-coding regulatory element ... Full text Link to item Cite

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries.

Journal Article Nat Commun · July 4, 2018 Lipoprotein(a), Lp(a), is a modified low-density lipoprotein particle that contains apolipoprotein(a), encoded by LPA, and is a highly heritable, causal risk factor for cardiovascular diseases that varies in concentrations across ancestries. Here, we use d ... Full text Link to item Cite

Traumatic stress and accelerated DNA methylation age: A meta-analysis.

Journal Article Psychoneuroendocrinology · June 2018 BACKGROUND: Recent studies examining the association between posttraumatic stress disorder (PTSD) and accelerated aging, as defined by DNA methylation-based estimates of cellular age that exceed chronological age, have yielded mixed results. METHODS: We co ... Full text Link to item Cite

Genomic Approaches to Posttraumatic Stress Disorder: The Psychiatric Genomic Consortium Initiative.

Journal Article Biol Psychiatry · May 15, 2018 Posttraumatic stress disorder (PTSD) after exposure to a traumatic event is a highly prevalent psychiatric disorder. Heritability estimates from twin studies as well as from recent molecular data (single nucleotide polymorphism-based heritability) indicate ... Full text Link to item Cite

Largest GWAS of PTSD (N=20 070) yields genetic overlap with schizophrenia and sex differences in heritability.

Journal Article Mol Psychiatry · March 2018 The Psychiatric Genomics Consortium-Posttraumatic Stress Disorder group (PGC-PTSD) combined genome-wide case-control molecular genetic data across 11 multiethnic studies to quantify PTSD heritability, to examine potential shared genetic risk with schizophr ... Full text Open Access Link to item Cite

Transcriptome analysis of adult and fetal trabecular meshwork, cornea, and ciliary body tissues by RNA sequencing.

Journal Article Exp Eye Res · February 2018 PURPOSE: To characterize the transcriptional landscape of human adult and fetal trabecular meshwork (TM), cornea, and ciliary body (CB) tissues, and to evaluate the expression level of candidate genes selected from genetic association studies of primary-op ... Full text Link to item Cite

Testosterone Pathway Genetic Polymorphisms in Relation to Primary Open-Angle Glaucoma: An Analysis in Two Large Datasets.

Journal Article Invest Ophthalmol Vis Sci · February 1, 2018 PURPOSE: Sex hormones may be associated with primary open-angle glaucoma (POAG), although the mechanisms are unclear. We previously observed that gene variants involved with estrogen metabolism were collectively associated with POAG in women but not men; h ... Full text Link to item Cite

Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma.

Journal Article PLoS Genet · January 2018 Central corneal thickness (CCT) is one of the most heritable ocular traits and it is also a phenotypic risk factor for primary open angle glaucoma (POAG). The present study uses the BXD Recombinant Inbred (RI) strains to identify novel quantitative trait l ... Full text Link to item Cite

Genome-wide association study of subcortical brain volume in PTSD cases and trauma-exposed controls.

Journal Article Transl Psychiatry · November 30, 2017 Depending on the traumatic event, a significant fraction of trauma survivors subsequently develop PTSD. The additional variability in PTSD risk is expected to arise from genetic susceptibility. Unfortunately, several genome-wide association studies (GWAS) ... Full text Link to item Cite

A putative causal relationship between genetically determined female body shape and posttraumatic stress disorder.

Journal Article Genome Med · November 27, 2017 BACKGROUND: The nature and underlying mechanisms of the observed increased vulnerability to posttraumatic stress disorder (PTSD) in women are unclear. METHODS: We investigated the genetic overlap of PTSD with anthropometric traits and reproductive behavior ... Full text Link to item Cite

Genetic correlations between intraocular pressure, blood pressure and primary open-angle glaucoma: a multi-cohort analysis.

Journal Article Eur J Hum Genet · November 2017 Primary open-angle glaucoma (POAG) is the most common chronic optic neuropathy worldwide. Epidemiological studies show a robust positive relation between intraocular pressure (IOP) and POAG and modest positive association between IOP and blood pressure (BP ... Full text Link to item Cite

The association of single-nucleotide polymorphisms in the oxytocin receptor and G protein-coupled receptor kinase 6 (GRK6) genes with oxytocin dosing requirements and labor outcomes.

Journal Article Am J Obstet Gynecol · September 2017 BACKGROUND: Oxytocin is a potent uterotonic agent that is widely used for induction and augmentation of labor. Oxytocin has a narrow therapeutic index and the optimal dosing for any individual woman varies widely. OBJECTIVE: The objective of this study was ... Full text Link to item Cite

Epigenome-wide association of PTSD from heterogeneous cohorts with a common multi-site analysis pipeline.

Journal Article Am J Med Genet B Neuropsychiatr Genet · September 2017 Compelling evidence suggests that epigenetic mechanisms such as DNA methylation play a role in stress regulation and in the etiologic basis of stress related disorders such as Post traumatic Stress Disorder (PTSD). Here we describe the purpose and methods ... Full text Link to item Cite

Systematic Functional Testing of Rare Variants: Contributions of CFI to Age-Related Macular Degeneration.

Journal Article Invest Ophthalmol Vis Sci · March 1, 2017 PURPOSE: Genome-wide association (GWAS) and sequencing studies for AMD have highlighted the importance of coding variants at loci that encode components of the complement pathway. However, assessing the contribution of such alleles to AMD, especially when ... Full text Link to item Cite

APOE ε4 associated with preserved executive function performance and maintenance of temporal and cingulate brain volumes in younger adults.

Journal Article Brain Imaging Behav · February 2017 The APOE ε4 allele is associated with cognitive deficits and brain atrophy in older adults, but studies in younger adults are mixed. We examined APOE genotype effects on cognition and brain structure in younger adults and whether genotype effects differed ... Full text Link to item Cite

Age at natural menopause genetic risk score in relation to age at natural menopause and primary open-angle glaucoma in a US-based sample.

Journal Article Menopause · February 2017 OBJECTIVE: Several attributes of female reproductive history, including age at natural menopause (ANM), have been related to primary open-angle glaucoma (POAG). We assembled 18 previously reported common genetic variants that predict ANM to determine their ... Full text Link to item Cite

Further evidence for a role of the ADRB2 gene in risk for posttraumatic stress disorder.

Journal Article J Psychiatr Res · January 2017 The aim of the present study was to attempt to replicate the recently reported finding associating rs2400707 of the Adrenoceptor Beta 2, Surface (ADRB2) gene and childhood trauma on PTSD symptoms. Participants included a predominantly veteran cohort of non ... Full text Link to item Cite

Thrombospondin-1 Polymorphisms Are Associated with Chronic Kidney Disease in Sickle Cell Anemia

Conference Blood · December 2, 2016 AbstractBackground: Sickle cell anemia (SCA) is characterized by the "sickling" of red blood cells (RBCs) and red cell rigidity, as well as increased cellular adhesiveness of blood cells and endothelium, lea ... Full text Cite

Factors Related to the Progression of Sickle Cell Disease Nephropathy

Conference Blood · December 2, 2016 AbstractBACKGROUND: As life expectancy in sickle cell disease (SCD) has continued to increase, chronic diseases are playing a bigger role in morbidity and mortality in this population. SCD nephropathy is a k ... Full text Cite

GWAS Meta-Analysis of Glomerular Filtration Rate in Three Cohorts of Sickle Cell Disease Patients and In Vivo Functional Analysis Reveals Potential Nephropathy Candidate Genes

Conference Blood · December 2, 2016 AbstractBACKGROUND: Sickle cell disease nephropathy (SCDN) is a common complication of sickle cell disease (SCD) associated with risk for early mortality (Platt et al., 1994; Elmari ... Full text Cite

Linkage of familial essential tremor to chromosome 5q35.

Journal Article Mov Disord · July 2016 BACKGROUND: Essential tremor is a neurological condition characterized by tremor during voluntary movement. To date, 3 loci linked to familial essential tremor have been identified. METHODS: We examined 48 essential tremor patients in 5 large essential tre ... Full text Link to item Cite

Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma.

Journal Article Nat Genet · February 2016 Primary open-angle glaucoma (POAG) is a leading cause of blindness worldwide. To identify new susceptibility loci, we performed meta-analysis on genome-wide association study (GWAS) results from eight independent studies from the United States (3,853 cases ... Full text Link to item Cite

Phase 1 Study of a Sulforaphane-Containing Broccoli Sprout Homogenate for Sickle Cell Disease.

Journal Article PLoS One · 2016 Sickle cell disease (SCD) is the most common inherited hemoglobinopathy worldwide. Our previous results indicate that the reduced oxidative stress capacity of sickle erythrocytes may be caused by decreased expression of NRF2 (Nuclear factor (erythroid-deri ... Full text Link to item Cite

Heavy metals, organic solvents, and multiple sclerosis: An exploratory look at gene-environment interactions.

Journal Article Arch Environ Occup Health · 2016 Exposure to heavy metals and organic solvents are potential etiologic factors for multiple sclerosis (MS), but their interaction with MS-associated genes is under-studied. The authors explored the relationship between environmental exposure to lead, mercur ... Full text Link to item Cite

The PsychENCODE project.

Journal Article Nat Neurosci · December 2015 Recent research on disparate psychiatric disorders has implicated rare variants in genes involved in global gene regulation and chromatin modification, as well as many common variants located primarily in regulatory regions of the genome. Understanding pre ... Full text Open Access Link to item Cite

Genetic variants and cellular stressors associated with exfoliation syndrome modulate promoter activity of a lncRNA within the LOXL1 locus.

Journal Article Hum Mol Genet · November 15, 2015 Exfoliation syndrome (XFS) is a common, age-related, systemic fibrillinopathy. It greatly increases risk of exfoliation glaucoma (XFG), a major worldwide cause of irreversible blindness. Coding variants in the lysyl oxidase-like 1 (LOXL1) gene are strongly ... Full text Link to item Cite

Evidence for fumonisin inhibition of ceramide synthase in humans consuming maize-based foods and living in high exposure communities in Guatemala.

Journal Article Mol Nutr Food Res · November 2015 SCOPE: Fumonisin (FB) occurs in maize and is an inhibitor of ceramide synthase (CerS). We determined the urinary FB1 (UFB1 ) and sphingoid base 1-phosphate levels in blood from women consuming maize in high and low FB exposure communities in Guatemala. MET ... Full text Link to item Cite

Effect of genetic variation in the nicotinic receptor genes on risk for posttraumatic stress disorder.

Journal Article Psychiatry Res · September 30, 2015 The present study examined the association between genetic variation in the nicotinic receptor gene family (CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNA9, CHRNA10, CHRNB2, CHRNB3, CHRNB4) and the occurrence of posttraumatic stress disorder (PTSD). ... Full text Link to item Cite

Genome-wide association study of posttraumatic stress disorder in a cohort of Iraq-Afghanistan era veterans.

Journal Article J Affect Disord · September 15, 2015 BACKGROUND: Posttraumatic stress disorder (PTSD) is a psychiatric disorder that can develop after experiencing traumatic events. A genome-wide association study (GWAS) design was used to identify genetic risk factors for PTSD within a multi-racial sample p ... Full text Link to item Cite

Pregnancy continuation and organizational religious activity following prenatal diagnosis of a lethal fetal defect are associated with improved psychological outcome.

Journal Article Prenat Diagn · August 2015 OBJECTIVE: The aim of the article is to examine the psychological impact, specifically symptoms of grief, post-traumatic stress and depression, in women and men who either terminated or continued a pregnancy following prenatal diagnosis of a lethal fetal d ... Full text Link to item Cite

A common variant near TGFBR3 is associated with primary open angle glaucoma.

Journal Article Hum Mol Genet · July 1, 2015 Primary open angle glaucoma (POAG), a major cause of blindness worldwide, is a complex disease with a significant genetic contribution. We performed Exome Array (Illumina) analysis on 3504 POAG cases and 9746 controls with replication of the most significa ... Full text Link to item Cite

In vivo Modeling Implicates APOL1 in Nephropathy: Evidence for Dominant Negative Effects and Epistasis under Anemic Stress.

Journal Article PLoS Genet · July 2015 African Americans have a disproportionate risk for developing nephropathy. This disparity has been attributed to coding variants (G1 and G2) in apolipoprotein L1 (APOL1); however, there is little functional evidence supporting the role of this protein in r ... Full text Open Access Link to item Cite

Alloimmunization in sickle cell disease: changing antibody specificities and association with chronic pain and decreased survival.

Journal Article Transfusion · June 2015 BACKGROUND: Alloimmunization remains a significant complication of transfusion and has been associated with multiple factors, including inflammation, an important pathophysiologic mechanism in sickle cell disease (SCD). We explored whether alloimmunization ... Full text Link to item Cite

Mouse Genomic Loci Modulating Corneal Thickness

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

GENOMIC LOCI MODULATING GANGLION CELL DEATH FOLLOWING ELEVATED IOP IN THE MOUSE

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2015 Link to item Cite

EFFECT OF THE APOE ε4 ALLELE AND COMBAT EXPOSURE ON PTSD AMONG IRAQ/AFGHANISTAN-ERA VETERANS.

Journal Article Depress Anxiety · May 2015 BACKGROUND: The apolipoprotein E (APOE) ε4 allele has been implicated in a range of neuropsychiatric conditions. The present research examined if the ε4 allele of the APOE gene moderated the effect of combat exposure on posttraumatic stress disorder (PTSD) ... Full text Link to item Cite

TMEM231, mutated in orofaciodigital and Meckel syndromes, organizes the ciliary transition zone.

Journal Article J Cell Biol · April 13, 2015 The Meckel syndrome (MKS) complex functions at the transition zone, located between the basal body and axoneme, to regulate the localization of ciliary membrane proteins. We investigated the role of Tmem231, a two-pass transmembrane protein, in MKS complex ... Full text Link to item Cite

A GENE REGULATORY NETWORK SHARED BETWEEN NEURULATION AND OROFACIAL DEVELOPMENT

Conference JOURNAL OF INVESTIGATIVE MEDICINE · April 1, 2015 Link to item Cite

Joint eQTL assessment of whole blood and dura mater tissue from individuals with Chiari type I malformation.

Journal Article BMC Genomics · January 22, 2015 BACKGROUND: Expression quantitative trait loci (eQTL) play an important role in the regulation of gene expression. Gene expression levels and eQTLs are expected to vary from tissue to tissue, and therefore multi-tissue analyses are necessary to fully under ... Full text Open Access Link to item Cite

Human health implications from co-exposure to aflatoxins and fumonisins in maize-based foods in Latin America: Guatemala as a case study

Journal Article World Mycotoxin Journal · January 1, 2015 Co-occurrence of fumonisin B1 (FB1) and aflatoxin B1 (AFB1) in maize has been demonstrated in many surveys. Combined-exposure to FB1 and AFB1 was of concern to the Joint FAO/WHO Expert Commi ... Full text Cite

An examination of the association between 5-HTTLPR, combat exposure, and PTSD diagnosis among U.S. veterans.

Journal Article PLoS One · 2015 OBJECTIVE: To examine the association between the 5-HTTLPR polymorphism of the serotonin transporter (SLC6A4) gene, combat exposure, and posttraumatic stress disorder (PTSD) diagnosis and among two samples of combat-exposed veterans. METHOD: The first samp ... Full text Link to item Cite

A blood spot method for detecting fumonisin-induced changes in putative sphingolipid biomarkers in LM/Bc mice and humans.

Journal Article Food Addit Contam Part A Chem Anal Control Expo Risk Assess · 2015 Fumonisins (FB) are mycotoxins found in maize. They are hypothesised risk factors for neural tube defects (NTDs) in humans living where maize is a dietary staple. In LM/Bc mice, FB1-treatment of pregnant dams induces NTDs and results in increased levels of ... Full text Link to item Cite

Angiogenic, neurotrophic, and inflammatory system SNPs moderate the association between birth weight and ADHD symptom severity.

Journal Article Am J Med Genet B Neuropsychiatr Genet · December 2014 Low birth weight is associated with increased risk for Attention-Deficit/Hyperactivity Disorder (ADHD); however, the etiological underpinnings of this relationship remain unclear. This study investigated if genetic variants in angiogenic, dopaminergic, neu ... Full text Link to item Cite

DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · November 20, 2014 PURPOSE: We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG). METHODS: Our study included DNA samples from two studies (NEIGHBOR and GLAUGEN). All the samples were genotyped with ... Full text Link to item Cite

Association of gene variants of the renin-angiotensin system with accelerated hippocampal volume loss and cognitive decline in old age.

Journal Article Am J Psychiatry · November 1, 2014 OBJECTIVE: Genetic factors confer risk for neuropsychiatric phenotypes, but the polygenic etiology of these phenotypes makes identification of genetic culprits challenging. An approach to this challenge is to examine the effects of genetic variation on rel ... Full text Link to item Cite

Familial and sporadic idiopathic pulmonary fibrosis: making the diagnosis from peripheral blood.

Journal Article BMC Genomics · October 16, 2014 BACKGROUND: Peripheral blood biomarkers might improve diagnostic accuracy for idiopathic pulmonary fibrosis (IPF). RESULTS: Gene expression profiles were obtained from 89 patients with IPF and 26 normal controls. Samples were stratified according to severi ... Full text Link to item Cite

Missing genetic risk in neural tube defects: can exome sequencing yield an insight?

Journal Article Birth Defects Res A Clin Mol Teratol · August 2014 BACKGROUND: Neural tube defects (NTD) have a strong genetic component, with up to 70% of variance in human prevalence determined by heritable factors. Although the identification of causal DNA variants by sequencing candidate genes from functionally releva ... Full text Link to item Cite

Identification of Chiari Type I Malformation subtypes using whole genome expression profiles and cranial base morphometrics.

Journal Article BMC Med Genomics · June 25, 2014 BACKGROUND: Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the foramen magnum at the base of the skull, resulting in significant neurologic morbidity. As CMI patients display a high degree of clinical vari ... Full text Open Access Link to item Cite

Urinary fumonisin B1 and estimated fumonisin intake in women from high- and low-exposure communities in Guatemala.

Journal Article Mol Nutr Food Res · May 2014 SCOPE: Fumonisin (FB) intake can be high when maize is a dietary staple. We determined (i) urinary FB (UFB) in women consuming maize in high- and low-exposure communities in Guatemala, (ii) the FB levels in maize, (iii) the relationship between UFB and FB ... Full text Link to item Cite

Factors associated with survival in a contemporary adult sickle cell disease cohort.

Journal Article Am J Hematol · May 2014 In this study, the relationship of clinical differences among patients with sickle cell disease (SCD) was examined to understand the major contributors to early mortality in a contemporary cohort. Survival data were obtained for 542 adult subjects who were ... Full text Link to item Cite

Copy Number Variants associated with Glaucoma in the NEIGHBOR Study

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item Cite

Rare Genetic Variants are Associated with POAG in Populations of African Ancestry

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · April 1, 2014 Link to item Cite

Hepatic gene expression profiles differentiate presymptomatic patients with mild versus severe nonalcoholic fatty liver disease.

Journal Article Hepatology · February 2014 UNLABELLED: Clinicians rely upon the severity of liver fibrosis to segregate patients with well-compensated nonalcoholic fatty liver disease (NAFLD) into subpopulations at high- versus low-risk for eventual liver-related morbidity and mortality. We compare ... Full text Link to item Cite

Cadmium exposure and the epigenome: Exposure-associated patterns of DNA methylation in leukocytes from mother-baby pairs.

Journal Article Epigenetics · February 2014 Cadmium (Cd) is prevalent in the environment yet understudied as a developmental toxicant. Cd partially crosses the placental barrier from mother to fetus and is linked to detrimental effects in newborns. Here we examine the relationship between levels of ... Full text Link to item Cite

Association between the oxytocin receptor (OXTR) gene and mesolimbic responses to rewards.

Journal Article Mol Autism · January 31, 2014 BACKGROUND: There has been significant progress in identifying genes that confer risk for autism spectrum disorders (ASDs). However, the heterogeneity of symptom presentation in ASDs impedes the detection of ASD risk genes. One approach to understanding ge ... Full text Open Access Link to item Cite

Genetic evaluation and application of posterior cranial fossa traits as endophenotypes for Chiari type I malformation.

Journal Article Ann Hum Genet · January 2014 Chiari Type I Malformation (CMI) is characterized by herniation of the cerebellar tonsils through the base of the skull. Although cerebellar tonsillar herniation (CTH) is hypothesized to result from an underdeveloped posterior cranial fossa (PF), patients ... Full text Link to item Cite

Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma.

Journal Article PLoS Genet · 2014 Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic inheritance. Genome-wide association studies have previously identified a significant association betwe ... Full text Link to item Cite

Genome-wide association study and meta-analysis of intraocular pressure.

Journal Article Hum Genet · January 2014 Elevated intraocular pressure (IOP) is a major risk factor for glaucoma and is influenced by genetic and environmental factors. Recent genome-wide association studies (GWAS) reported associations with IOP at TMCO1 and GAS7, and with primary open-angle glau ... Full text Link to item Cite

In Vivo Modeling Of Genetic Mechanisms Associated With Sickle Cell Disease Nephropathy

Conference Blood · November 15, 2013 AbstractEnd-organ damage in patients with sickle cell disease (SCD) has become an emergent clinical priority over recent decades due to the increased lifespan of affected individuals. Renal failure (ESRD), w ... Full text Cite

Relationship between methylome and transcriptome in patients with nonalcoholic fatty liver disease.

Journal Article Gastroenterology · November 2013 BACKGROUND & AIMS: Cirrhosis and liver cancer are potential outcomes of advanced nonalcoholic fatty liver disease (NAFLD). It is not clear what factors determine whether patients will develop advanced or mild NAFLD, limiting noninvasive diagnosis and treat ... Full text Link to item Cite

Nicotinic receptor gene variants interact with attention deficient hyperactive disorder symptoms to predict smoking trajectories from early adolescence to adulthood.

Journal Article Addict Behav · November 2013 OBJECTIVE: To examine the association of single nucleotide polymorphisms (SNPs) of the CHRNB3 (rs13280604) and CHRNA6 (rs892413) nicotinic acetylcholine receptor (nAChR) genes and symptoms of attention deficit hyperactivity disorder (ADHD) in predicting sm ... Full text Link to item Cite

Genetic association analyses of nitric oxide synthase genes and neural tube defects vary by phenotype.

Journal Article Birth Defects Res B Dev Reprod Toxicol · October 2013 Neural tube defects (NTDs) are caused by improper neural tube closure during the early stages of embryonic development. NTDs are hypothesized to have a complex genetic origin and numerous candidate genes have been proposed. The nitric oxide synthase 3 (NOS ... Full text Link to item Cite

Gene expression profile in human trabecular meshwork from patients with primary open-angle glaucoma.

Journal Article Invest Ophthalmol Vis Sci · September 27, 2013 PURPOSE: To identify the specific genes in human trabecular meshwork (TM) related to POAG. METHODS: Primary open-angle glaucoma TM specimens were obtained from routine trabeculectomy surgery. Nonglaucomatous control TM specimens were dissected from donor e ... Full text Link to item Cite

Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry.

Journal Article Invest Ophthalmol Vis Sci · September 17, 2013 PURPOSE: Multiple genes have been associated with primary open angle glaucoma (POAG) in Caucasian populations. We now examine the association of these loci in populations of African ancestry, populations at particularly high risk for POAG. METHODS: We geno ... Full text Link to item Cite

Interaction of HLA-DRB1*1501 and TNF-Alpha in a Population-based Case-control Study of Multiple Sclerosis.

Journal Article Immunol Infect Dis · September 2013 This study was conducted to determine whether single nucleotide polymorphisms (SNPs) in nine genes (human leukocyte antigen (HLA), T cell receptor beta (TCA receptor β), tumor necrosis factor α (TNF α), tumor necrosis factor β (TNF β), apolipoprotein E (AP ... Full text Link to item Cite

Folate metabolism genes, dietary folate and response to antidepressant medications in late-life depression.

Journal Article Int J Geriatr Psychiatry · September 2013 OBJECTIVE: The primary aims of this study were to (i) determine whether folate metabolism genetic polymorphisms predict age of onset and occurrence of late life depression; and (ii) determine whether folate metabolism genetic polymorphisms predict response ... Full text Link to item Cite

Gene-centric association study of acute chest syndrome and painful crisis in sickle cell disease patients.

Journal Article Blood · July 18, 2013 Patients with sickle cell disease (SCD) present with a wide range of clinical complications. Understanding this clinical heterogeneity offers the prospects to tailor the right treatments to the right patients and also guide the development of novel therapi ... Full text Link to item Cite

Generalized admixture mapping for complex traits.

Journal Article G3 (Bethesda) · July 8, 2013 Admixture mapping is a popular tool to identify regions of the genome associated with traits in a recently admixed population. Existing methods have been developed primarily for identification of a single locus influencing a dichotomous trait within a case ... Full text Open Access Link to item Cite

Outcome and life satisfaction of adults with myelomeningocele.

Journal Article Disabil Health J · July 2013 BACKGROUND: Myelomeningocele (MMC) commonly causes impairments in body structure and functions as well as cognitive disabilities that can have an adverse effect on adult life. Improved medical care has resulted in increased numbers of individuals with MMC ... Full text Link to item Cite

Association of Variant rs4790904 in Protein Kinase C Alpha with Posttraumatic Stress Disorder in a U.S. Caucasian and African-American Veteran Sample.

Journal Article J Depress Anxiety · June 1, 2013 BACKGOUND: Posttraumatic stress sisorder (PTSD) is a complex anxiety disorder that can develop after traumatic event exposure. Genetic factors have been associated with PTSD risk. Recently a variant rs4790904 in the protein kinase C alpha (PRKCA) gene has ... Full text Link to item Cite

Rare Genetic Variants in African Americans with Primary Open Angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

The Role of Protein-Coding Variants in South Africans with Exfoliation Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

The role of SIX6 in primary open-angle glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · June 1, 2013 Link to item Cite

Negative life stress and longitudinal hippocampal volume changes in older adults with and without depression.

Journal Article J Psychiatr Res · June 2013 Major depressive disorder is associated with smaller hippocampal volumes but the mechanisms underlying this relationship are unclear. To examine the effect of environmental influences, we examined the relationship between self-reported stressors and two-ye ... Full text Link to item Cite

Genetics of the Chiari i and II malformations

Chapter · March 1, 2013 Chiari malformations are considered to have a multifactorial etiology, likely influenced by environmental and genetic factors. This chapter will detail the evidence that supports a genetic contribution to the disorder, including discussions of twin studies ... Full text Cite

Fiber tract-specific white matter lesion severity Findings in late-life depression and by AGTR1 A1166C genotype.

Journal Article Hum Brain Mapp · February 2013 Past work demonstrated that late-life depression is associated with greater severity of ischemic cerebral hyperintense white matter lesions, particularly frontal lesions. However, these lesions are also associated with other neuropsychiatric deficits, so t ... Full text Link to item Cite

Genome-wide association analyses identify multiple loci associated with central corneal thickness and keratoconus.

Journal Article Nat Genet · February 2013 Central corneal thickness (CCT) is associated with eye conditions including keratoconus and glaucoma. We performed a meta-analysis on >20,000 individuals in European and Asian populations that identified 16 new loci associated with CCT at genome-wide signi ... Full text Link to item Cite

Stratified whole genome linkage analysis of Chiari type I malformation implicates known Klippel-Feil syndrome genes as putative disease candidates.

Journal Article PLoS One · 2013 Chiari Type I Malformation (CMI) is characterized by displacement of the cerebellar tonsils below the base of the skull, resulting in significant neurologic morbidity. Although multiple lines of evidence support a genetic contribution to disease, no genes ... Full text Open Access Link to item Cite

Stac3 is a component of the excitation-contraction coupling machinery and mutated in Native American myopathy.

Journal Article Nat Commun · 2013 Excitation-contraction coupling, the process that regulates contractions by skeletal muscles, transduces changes in membrane voltage by activating release of Ca(2+) from internal stores to initiate muscle contraction. Defects in excitation-contraction coup ... Full text Link to item Cite

Adverse subpopulation regression for multivariate outcomes with high-dimensional predictors.

Journal Article Stat Med · December 20, 2012 Biomedical studies have a common interest in assessing relationships between multiple related health outcomes and high-dimensional predictors. For example, in reproductive epidemiology, one may collect pregnancy outcomes such as length of gestation and bir ... Full text Link to item Cite

The serotonin transporter gene polymorphism (5HTTLPR) moderates the effect of adolescent environmental conditions on self-esteem in young adulthood: a structural equation modeling approach.

Journal Article Biol Psychol · September 2012 Here we examine the effects of both self-reported and independent observer-reported environmental risk indices, the serotonin transporter gene promoter (5HTTLPR) polymorphism, and their interaction on self-esteem. This trait was assessed during early and m ... Full text Open Access Link to item Cite

Transcriptome profiling of genes involved in neural tube closure during human embryonic development using long serial analysis of gene expression (long-SAGE).

Journal Article Birth Defects Res A Clin Mol Teratol · September 2012 BACKGROUND: Neural tube defects (NTDs) are common human birth defects with a complex etiology. To develop a comprehensive knowledge of the genes expressed during normal neurulation, we established transcriptomes from human neural tube fragments during and ... Full text Link to item Cite

The kinetics of urinary fumonisin B1 excretion in humans consuming maize-based diets.

Journal Article Mol Nutr Food Res · September 2012 SCOPE: Fumonisins (FB) are mycotoxins found in maize. The purpose of this study was to (i) determine the relationship between FB(1) , FB(2) , and FB(3) intake and urinary excretion in humans, (ii) validate a method to isolate urinary FB on C(18) -SPE cartr ... Full text Link to item Cite

Design, methodological issues and participation in a multiple sclerosis case-control study.

Journal Article Acta Neurol Scand · September 2012 OBJECTIVES: This study was conducted to determine whether the risk of developing multiple sclerosis (MS) was associated with certain environmental exposures or genetic factors previously reported to influence MS risk. This paper describes the methodologica ... Full text Link to item Cite

Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia.

Journal Article Invest Ophthalmol Vis Sci · July 3, 2012 PURPOSE: To investigate the effects of central corneal thickness (CCT)-associated variants on primary open-angle glaucoma (POAG) risk using single nucleotide polymorphisms (SNP) data from the Glaucoma Genes and Environment (GLAUGEN) and National Eye Instit ... Full text Link to item Cite

AGTR1 gene variation: association with depression and frontotemporal morphology.

Journal Article Psychiatry Res · May 31, 2012 The renin-angiotensin system (RAS) is implicated in the response to physiological and psychosocial stressors, but its role in stress-related psychiatric disorders is poorly understood. We examined if variation in AGTR1, the gene coding for the type 1 angio ... Full text Link to item Cite

Epigenetic Regulation of Gene Expression in NAFLD

Conference GASTROENTEROLOGY · May 1, 2012 Link to item Cite

Clinical, radiological, and genetic similarities between patients with Chiari Type I and Type 0 malformations.

Journal Article J Neurosurg Pediatr · April 2012 OBJECT: Although Chiari Type I (CM-I) and Type 0 (CM-0) malformations have been previously characterized clinically and radiologically, there have been no studies focusing on the possible genetic link between these disorders. The goal of this study was to ... Full text Link to item Cite

Impact of BDNF Val66Met and 5-HTTLPR polymorphism variants on neural substrates related to sadness and executive function.

Journal Article Genes Brain Behav · April 2012 The brain-derived neurotrophic factor (BDNF) Val(66) Met allelic variation is linked to both the occurrence of mood disorders and antidepressant response. These findings are not universally observed, and the mechanism by which this variation results in inc ... Full text Link to item Cite

A preliminary analysis of interactions between genotype, retrospective ADHD symptoms, and initial reactions to smoking in a sample of young adults.

Journal Article Nicotine Tob Res · February 2012 INTRODUCTION: Initial reactions to cigarettes predict later regular smoking. Symptoms of attention deficit hyperactivity disorder (ADHD) have also been shown to increase smoking risk and may moderate the relationship between genotype and smoking. We conduc ... Full text Link to item Cite

Don't give up on GWAS.

Journal Article Mol Psychiatry · January 2012 Full text Link to item Cite

Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

Journal Article PLoS One · 2012 The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease) precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarit ... Full text Link to item Cite

Bipolar disorder, brain-derived neurotrophic factor (BDNF) Val66Met polymorphism and brain morphology.

Journal Article PLoS One · 2012 In this study of the effect of bipolar status and presence of BDNF Val66Met polymorphism on differences in regional brain volumes, we hypothesized based on previous studies that 1) bipolar subjects will have smaller regional brain volumes than healthy cont ... Full text Link to item Cite

A genome-wide association study of total bilirubin and cholelithiasis risk in sickle cell anemia.

Journal Article PLoS One · 2012 Serum bilirubin levels have been associated with polymorphisms in the UGT1A1 promoter in normal populations and in patients with hemolytic anemias, including sickle cell anemia. When hemolysis occurs circulating heme increases, leading to elevated bilirubi ... Full text Link to item Cite

The role of lysyl oxidase-like 1 DNA copy number variants in exfoliation glaucoma.

Journal Article Mol Vis · 2012 PURPOSE: To investigate whether DNA copy number variants (CNVs) in the lysyl oxidase-like 1 (LOXL1) gene are associated with exfoliation glaucoma (XFG) in black South Africans. METHODS: Black South African subjects with XFG and age-matched unaffected contr ... Link to item Cite

MYH9 and APOL1 are both associated with sickle cell disease nephropathy.

Journal Article Br J Haematol · November 2011 Renal failure occurs in 5-18% of sickle cell disease (SCD) patients and is associated with early mortality. At-risk SCD patients cannot be identified prior to the appearance of proteinuria and the pathobiology is not well understood. The myosin, heavy chai ... Full text Link to item Cite

Self-Regulation of Emotion, Functional Impairment, and Comorbidity Among ChildrenWith AD/HD.

Journal Article J Atten Disord · October 2011 OBJECTIVE: This study investigated the role of self-regulation of emotion in relation to functional impairment and comorbidity among children with and without AD/HD. METHOD: A total of 358 probands and their siblings participated in the study, with 74% of ... Full text Link to item Cite

Maternal vitamin D receptor genetic variation contributes to infant birthweight among black mothers.

Journal Article Am J Med Genet A · June 2011 Racial disparity in pregnancy outcomes is one of the most striking and poorly understood inequalities in American health. Genetic variability may be an important host factor influencing disparate birth outcomes between non-Hispanic black (NHB) and non-Hisp ... Full text Link to item Cite

Effects of 5HTTLPR on cardiovascular response to an emotional stressor.

Journal Article Psychosom Med · May 2011 OBJECTIVES: To replicate a prior main effect of the serotonin transporter gene promoter (5HTTLPR) genotype on cardiovascular reactivity (CVR) and explore caregiver stress as a potential moderator of 5HTTLPR effects on CVR. On the basis of prior findings, w ... Full text Link to item Cite

BDNF Val66Met genotype and 6-month remission rates in late-life depression.

Journal Article Pharmacogenomics J · April 2011 Although not observed in younger adult cohorts, in older individuals the brain-derived neurotrophic factor (BDNF) Val66Met polymorphism is associated with major depressive disorder (MDD) risk. It is further associated with subjective social support and mag ... Full text Link to item Cite

The ATXN1 and TRIM31 genes are related to intelligence in an ADHD background: evidence from a large collaborative study totaling 4,963 subjects.

Journal Article Am J Med Genet B Neuropsychiatr Genet · March 2011 Intelligence is a highly heritable trait for which it has proven difficult to identify the actual genes. In the past decade, five whole-genome linkage scans have suggested genomic regions important to human intelligence; however, so far none of the respons ... Full text Link to item Cite

Hydroxyurea Induces Genome-Wide Epigenetic Changes In Sickle Cell Disease

Conference Blood · November 19, 2010 AbstractAbstract 2670Introduction:Hydroxyurea (HU) is currently the only pharmacologic agent widely u ... Full text Cite

Central nervous system serotonin and clustering of hostility, psychosocial, metabolic, and cardiovascular endophenotypes in men.

Journal Article Psychosom Med · September 2010 OBJECTIVE: To use measures of cerebrospinal fluid (CSF) 5-hydroxyindoleacetic acid (5HIAA) and genotype of a functional polymorphism of the monoamine oxidase A gene promoter (MAOA-uVNTR) to study the role of central nervous system (CNS) serotonin in cluste ... Full text Link to item Cite

Angiotensin receptor gene polymorphisms and 2-year change in hyperintense lesion volume in men.

Journal Article Mol Psychiatry · August 2010 Featured Publication This longitudinal study examined the relationship between 2-year change in white matter hyperintense lesion (WML) volume and polymorphisms in genes coding for the angiotensin-II type 1 and type 2 receptors, AGTR1 A1166C and AGTR2 C3123A, respectively. 137 ... Full text Link to item Cite

Impact of psychological stress on the associations between apolipoprotein E variants and metabolic traits: findings in an American sample of caregivers and controls.

Journal Article Psychosom Med · June 2010 OBJECTIVE: To examine the association between apolipoprotein E (APOE) gene variants and waist circumference, fasting plasma glucose, serum insulin, serum high-density lipoprotein cholesterol, and serum triglycerides, all metabolic traits known as cardiovas ... Full text Link to item Cite

Genetic variants in SLC9A9 are associated with measures of attention-deficit/hyperactivity disorder symptoms in families.

Journal Article Psychiatr Genet · April 2010 Featured Publication OBJECTIVE: A family was previously identified that cosegregates a pericentric inversion, inv(3)(p14 : q21), with an early-onset developmental condition, characterized by impulsive behavior and intellectual deficit. The inversion breakpoints lie within DOCK ... Full text Link to item Cite

Fetal hemoglobin in sickle cell anemia: genome-wide association studies suggest a regulatory region in the 5' olfactory receptor gene cluster.

Journal Article Blood · March 4, 2010 In a genome-wide association study of 848 blacks with sickle cell anemia, we identified single nucleotide polymorphisms (SNPs) associated with fetal hemoglobin concentration. The most significant SNPs in a discovery sample were tested in a replication set ... Full text Link to item Cite

Epidemiologic and genetic aspects of spina bifida and other neural tube defects.

Journal Article Dev Disabil Res Rev · 2010 The worldwide incidence of neural tube defects (NTDs) ranges from 1.0 to 10.0 per 1,000 births with almost equal frequencies between two major categories: anencephaly and spina bifida (SB). Epidemiological studies have provided valuable insight for (a) res ... Full text Link to item Cite

Genetic modifiers of the severity of sickle cell anemia identified through a genome-wide association study.

Journal Article Am J Hematol · January 2010 Featured Publication We conducted a genome-wide association study (GWAS) to discover single nucleotide polymorphisms (SNPs) associated with the severity of sickle cell anemia in 1,265 patients with either "severe" or "mild" disease based on a network model of disease severity. ... Full text Link to item Cite

743: Genetic variation in G-protein coupled receptor kinase-5 and preeclampsia

Conference American Journal of Obstetrics and Gynecology · December 2009 Full text Cite

Polymorphisms in TNFα Are Associated with Cerebrovascular Events in Sickle Cell Disease.

Conference Blood · November 20, 2009 AbstractAbstract 1540Poster Board I-563Tumor necrosis factor alpha (TNFα) is a pro-inflammatory cytokine that stimulates phagocytosis, neutro ... Full text Cite

Natural food folate and late-life depression.

Journal Article J Nutr Elder · October 2009 Low folate status has been linked to depression, but findings have been inconsistent. The authors sought to examine the association between folate intake and late-life depression. This cross-sectional study included individuals age 60 and older (n = 111 de ... Full text Link to item Cite

Influence of the MTHFR C677T polymorphism on magnetic resonance imaging hyperintensity volume and cognition in geriatric depression.

Journal Article Am J Geriatr Psychiatry · October 2009 OBJECTIVE: The 5,10-methylenetetrahydrofolate reductase gene (MTHFR) has been linked to unipolar major depressive disorder (MDD) and magnetic resonance imaging (MRI) hyperintensities. The authors examined the relationship between the MTHFR C677T polymorphi ... Full text Link to item Cite

Association analysis of the COMT/MTHFR genes and geriatric depression: an MRI study of the putamen.

Journal Article Int J Geriatr Psychiatry · August 2009 OBJECTIVE: Catechol-O-Methyltransferase (COMT) and Methylenetetrahydrofolate reductase (MTHFR) had been reported to relate to depression but with inconsistent results. The basal ganglia are also important in the pathophysiology of affective disorder via co ... Full text Link to item Cite

Effects of postnatal parental smoking on parent and teacher ratings of ADHD and oppositional symptoms.

Journal Article J Nerv Ment Dis · June 2009 Featured Publication To assess the effects of postnatal parental smoking on subsequent parent and teacher ratings of DSM-IV attention deficit hyperactivity disorder (ADHD) symptoms and oppositional behaviors in children diagnosed with ADHD and their siblings. Children between ... Full text Link to item Cite

Interactions between genotype and depressive symptoms on obesity.

Journal Article Behav Genet · May 2009 Depression and Genetic variation in serotonin and monoamine transmission have both been associated with body mass index (BMI), but their interaction effects are not well understood. We examined the interaction between depressive symptoms and functional pol ... Full text Link to item Cite

Multiple rare SAPAP3 missense variants in trichotillomania and OCD.

Journal Article Mol Psychiatry · January 2009 Featured Publication Full text Link to item Cite

SNPs in dopamine D2 receptor gene (DRD2) and norepinephrine transporter gene (NET) are associated with continuous performance task (CPT) phenotypes in ADHD children and their families.

Journal Article Am J Med Genet B Neuropsychiatr Genet · December 5, 2008 Haplotype-tagging SNP analyses were conducted to identify molecular genetic substrates of quantitative phenotypes derived from performance on a Continuous Performance Task (CPT). Three hundred sixty-four individuals were sampled from 152 families ascertain ... Full text Link to item Cite

Surgical and obstetric outcomes in adults with sickle cell disease.

Journal Article Am J Med · October 2008 BACKGROUND: Sickle cell disease patients are more likely than the general population to undergo surgery and usually do so at a younger age. Female sickle cell disease patients also have special gynecological and obstetric issues related to their disease. M ... Full text Link to item Cite

HPA axis function in male caregivers: effect of the monoamine oxidase-A gene promoter (MAOA-uVNTR).

Journal Article Biol Psychol · October 2008 Caregiving stress is associated with negative health outcomes. Neuroendocrine functioning may be a mediator of such outcomes. The MAOA gene regulates activity of neurotransmitters involved with neuroendocrine responses to stress. Differences in polymorphis ... Full text Link to item Cite

Further evidence for a maternal genetic effect and a sex-influenced effect contributing to risk for human neural tube defects.

Journal Article Birth Defects Res A Clin Mol Teratol · October 2008 Featured Publication BACKGROUND: Neural tube defects (NTDs), including spina bifida and anencephaly, are the second most common birth defect with an incidence of 1/1000. Genetic factors are believed to contribute to NTD risk and family-based studies can be useful for identifyi ... Full text Link to item Cite

5-HTTLPR and gender moderate changes in negative affect responses to tryptophan infusion.

Journal Article Behav Genet · September 2008 Expression of the serotonin transporter is affected by the genotype of the 5-HTTLPR (short and long forms) as well as the genotype of the SNP rs25531 within this region. Based on the combined genotypes for these polymorphisms, we designated each allele as ... Full text Link to item Cite

Identification of genetic polymorphisms associated with risk for pulmonary hypertension in sickle cell disease.

Journal Article Blood · June 15, 2008 Featured Publication Up to 30% of adult patients with sickle cell disease (SCD) will develop pulmonary hypertension (pHTN), a complication associated with significant morbidity and mortality. To identify genetic factors that contribute to risk for pHTN in SCD, we performed ass ... Full text Link to item Cite

Refinement of 2q and 7p loci in a large multiplex NTD family.

Journal Article Birth Defects Res A Clin Mol Teratol · June 2008 BACKGROUND: NTDs are considered complex disorders that arise from an interaction between genetic and environmental factors. NTD family 8776 is a large multigenerational Caucasian family that provides a unique resource for the genetic analysis of NTDs. Prev ... Full text Link to item Cite

Lack of Duffy antigen expression is associated with organ damage in patients with sickle cell disease.

Journal Article Transfusion · May 2008 BACKGROUND: The Duffy glycoprotein (Fy) on red blood cells (RBCs) has been hypothesized to promote clearance of inflammatory cytokines, which may play a role in the pathogenesis of vasoocclusion in sickle cell disease (SCD). Persons with the African-type F ... Full text Link to item Cite

beta(2)-Adrenergic receptor and adenylate cyclase gene polymorphisms affect sickle red cell adhesion.

Journal Article Br J Haematol · April 2008 Sickle red cell (SS RBC) adhesion is thought to contribute to sickle cell disease (SCD) pathophysiology. SS RBC adhesion to laminin increases in response to adrenaline stimulation of beta(2)-adrenergic receptors (beta(2)ARs) and adenylate cyclase (ADCY6), ... Full text Link to item Cite

Lipid levels are associated with a regulatory polymorphism of the monoamine oxidase-A gene promoter (MAOA-uVNTR).

Journal Article Med Sci Monit · February 2008 BACKGROUND: The monoamine oxidase-A (MAOA) gene plays a vital role in the metabolism of neurotransmitters, e.g, serotonin, norepinephrine, and dopamine. A polymorphism in the promoter region (MAOA-uVNTR) affects transcriptional efficiency. Allelic variatio ... Link to item Cite

Genes implicated in serotonergic and dopaminergic functioning predict BMI categories.

Journal Article Obesity (Silver Spring) · February 2008 OBJECTIVE: This study addressed the hypothesis that variation in genes associated with dopamine function (SLC6A3, DRD2, DRD4), serotonin function (SLC6A4, and regulation of monoamine levels (MAOA) may be predictive of BMI categories (obese and overweight + ... Full text Link to item Cite

Childhood socioeconomic status and serotonin transporter gene polymorphism enhance cardiovascular reactivity to mental stress.

Journal Article Psychosom Med · January 2008 OBJECTIVE: To test the hypothesis that low socioeconomic status (SES) and the 5HTTLPR L allele are associated with increased cardiovascular reactivity (CVR) to stress in a larger sample and that SES and 5HTTLPR genotypes interact to enhance CVR to stress. ... Full text Link to item Cite

Effects of environmental stress and gender on associations among symptoms of depression and the serotonin transporter gene linked polymorphic region (5-HTTLPR).

Journal Article Behav Genet · January 2008 The short (s) variant of the serotonin transporter (5-HTT) gene linked functional polymorphic region (5-HTTLPR) is associated with depression. Stressful life events, gender, and race have been shown to moderate this association. We examined the relationshi ... Full text Link to item Cite

Pulmonary hypertension associated with sickle cell disease: clinical and laboratory endpoints and disease outcomes.

Journal Article Am J Hematol · January 2008 Screening for pulmonary hypertension (pHTN) has not yet become routine in sickle cell disease (SCD), despite clinical evidence of its high prevalence and associated mortality. Our objectives are to identify clinical conditions and laboratory findings predi ... Full text Link to item Cite

Interactions between genotype and retrospective ADHD symptoms predict lifetime smoking risk in a sample of young adults.

Journal Article Nicotine Tob Res · January 2008 Attention-deficit/hyperactivity disorder (ADHD) symptoms are associated with an increased risk of smoking, and genetic studies have identified similar candidate genes associated with both ADHD and smoking phenotypes. This paper addresses the question of wh ... Full text Link to item Cite

The Effects of Chronic Opiates Pain Therapy in Sickle Cell Anemia.

Conference Blood · November 16, 2007 AbstractSickle cell disease (SCD) patients experience high rates of morbidity and early mortality. Hydroxyurea (HU) therapy is associated with decreased morbidity and mortality as well as improved patient he ... Full text Cite

Investigation of potential gene-gene interactions between APOE and RELN contributing to autism risk.

Journal Article Psychiatr Genet · August 2007 Featured Publication BACKGROUND: Several candidate gene studies support RELN as susceptibility gene for autism. Given the complex inheritance pattern of autism, it is expected that gene-gene interactions will exist. A logical starting point for examining potential gene-gene in ... Full text Link to item Cite

Associations of a regulatory polymorphism of monoamine oxidase-A gene promoter (MAOA-uVNTR) with symptoms of depression and sleep quality.

Journal Article Psychosom Med · June 2007 OBJECTIVE: To examine the relationships among the variable number of tandem repeats in the monoamine oxidase-A linked polymorphic region allelic variation (MAOA-uVNTR) and the symptoms of depression and sleep quality. The monoamine oxidase-A (MAOA) gene, w ... Full text Link to item Cite

HLA-DR15 haplotype and multiple sclerosis: a HuGE review.

Journal Article Am J Epidemiol · May 15, 2007 An association between multiple sclerosis (MS) and the human leukocyte antigen (HLA) complex, a dense cluster of genes on the short arm of chromosome 6, was first noted over 30 years ago. In Caucasian populations of Northern European descent, the DR15 hapl ... Full text Link to item Cite

Genetic polymorphisms associated with priapism in sickle cell disease.

Journal Article Br J Haematol · May 2007 Priapism occurs in 30-45% of male patients with sickle cell disease (SCD), but the possible influence of genetic risk factors on the incidence of priapism is not well understood. We examined genetic polymorphisms in 199 unrelated, adult (>18 years), male p ... Full text Link to item Cite

Sleep quality varies as a function of 5-HTTLPR genotype and stress.

Journal Article Psychosom Med · 2007 OBJECTIVE: To test the hypothesis that allelic variation in 5HTT gene-linked polymorphic region (5-HTTLPR) genotype was associated with sleep quality (Pittsburgh Sleep Quality Index, PSQI) as a main effect and as moderated by the chronic stress of caregivi ... Full text Link to item Cite

Genetic associations with reaction time variability in AD/HD

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · October 5, 2006 Link to item Cite

Polymorphisms in DRD2 are associated with AD/HD

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · October 5, 2006 Link to item Cite

Trichotillomania is associated with mutations in SLITRK1

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · October 5, 2006 Link to item Cite

SLITRK1 mutations in trichotillomania.

Journal Article Mol Psychiatry · October 2006 Featured Publication Full text Link to item Cite

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Journal Article Am J Hum Genet · August 2006 Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations ... Full text Link to item Cite

Lack of association between autism and SLC25A12.

Journal Article Am J Psychiatry · May 2006 OBJECTIVE: Autism has a strong, complex genetic component, most likely involving several genes. Multiple genomic screens have shown evidence suggesting linkage to chromosome 2q31-q33, which includes the SLC25A12 gene. Recently, an association between autis ... Full text Link to item Cite

An analysis paradigm for investigating multi-locus effects in complex disease: examination of three GABA receptor subunit genes on 15q11-q13 as risk factors for autistic disorder.

Journal Article Ann Hum Genet · May 2006 Gene-gene interactions are likely involved in many complex genetic disorders and new statistical approaches for detecting such interactions are needed. We propose a multi-analytic paradigm, relying on convergence of evidence across multiple analysis tools. ... Full text Link to item Cite

Extension of multifactor dimensionality reduction for identifying multilocus effects in the GAW14 simulated data.

Journal Article BMC Genet · December 30, 2005 The multifactor dimensionality reduction (MDR) is a model-free approach that can identify gene x gene or gene x environment effects in a case-control study. Here we explore several modifications of the MDR method. We extended MDR to provide model selection ... Full text Link to item Cite

Determining Genetic Component of a Disease

Journal Article · October 7, 2005 Full text Cite

Identification of significant association and gene-gene interaction of GABA receptor subunit genes in autism.

Journal Article Am J Hum Genet · September 2005 Autism is a common neurodevelopmental disorder with a significant genetic component. Existing research suggests that multiple genes contribute to autism and that epigenetic effects or gene-gene interactions are likely contributors to autism risk. However, ... Full text Link to item Cite

Analysis of the RELN gene as a genetic risk factor for autism.

Journal Article Mol Psychiatry · June 2005 Several genome-wide screens have indicated the presence of an autism susceptibility locus within the distal long arm of chromosome 7 (7q). Mapping at 7q22 within this region is the candidate gene reelin (RELN). RELN encodes a signaling protein that plays a ... Full text Link to item Cite

An autosomal genomic screen for dementia in an extended Amish family.

Journal Article Neurosci Lett · May 13, 2005 Apolipoprotein E (APOE) is the only universally confirmed susceptibility gene for late-onset Alzheimer disease (LOAD), although many loci are believed to modulate LOAD risk. The genetic homogeneity of isolated populations, such as the Amish, potentially pr ... Full text Link to item Cite

Linkage disequilibrium inflates type I error rates in multipoint linkage analysis when parental genotypes are missing.

Journal Article Hum Hered · 2005 OBJECTIVES: Describe the inflation in nonparametric multipoint LOD scores due to inter-marker linkage disequilibrium (LD) across many markers with varied allele frequencies. METHOD: Using simulated two-generation families with and without parents, we condu ... Full text Link to item Cite

Analysis of the autism chromosome 2 linkage region: GAD1 and other candidate genes.

Journal Article Neurosci Lett · December 6, 2004 Autism has a strong and complex genetic component, involving several genes. Genomic screens, including our own, have shown suggestive evidence for linkage over a 20-30 cM region on chromosome 2q31-q33. Two subsequent reports showed that the linkage evidenc ... Full text Link to item Cite

Genetic Polymorphisms Associated with Risk for Pulmonary Hypertension and Proteinuria in Sickle Cell Disease.

Conference Blood · November 16, 2004 AbstractIn order to identify genetic variants that modify the clinical severity of sickle cell disease (SCD), 118 patients with Hb SS or Hb Sβ0-thalassemia at our centers have undergone echocardiography (ech ... Full text Cite

Pulmonary Hypertension in SS, SC and Sβ Thalassemia: Prevalence, Associated Clinical Syndromes, and Mortality.

Conference Blood · November 16, 2004 AbstractThe natural history and mechanisms associated with pulmonary hypertension (pHTN) in sickle cell disease (SCD) are incompletely characterized. We investigated the prevalence of pHTN, diagnosed by echo ... Full text Cite

Effects of Single Nucleotide Polymorphisms of the β2 Adrenergic Receptor and of Adenylate Cyclase on Sickle Red Cell Adhesion to Laminin.

Conference Blood · November 16, 2004 AbstractSingle nucleotide polymorphisms (SNPs) of the β2 adrenergic receptor (β2AR) gene (ADRB2) on chromosome 5 have been implicated in clinical variability of several cardiopulmonary disorders. Also, Hoppe ... Full text Cite

Mutation screening and SNP analysis of GABRB3 in a subset of autistic individuals

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · September 15, 2004 Link to item Cite

The genetics of AD/HD: Subtyping, comorbidity and developmental considerations

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · September 15, 2004 Link to item Cite

Evidence for gene-gene interactions influencing susceptibility to autistic disorder

Conference AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS · September 15, 2004 Link to item Cite

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations.

Journal Article Neurogenetics · September 2004 Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative disease characterized by wide variability in phenotypic expression, both within and among families. The most-common cause of autosomal dominant HSP is mutation of the gene ... Full text Link to item Cite

A genomic screen for a novel essential tremor locus

Conference MOVEMENT DISORDERS · January 1, 2004 Link to item Cite

Adjusting for covariates on a slippery slope: linkage analysis of change over time.

Journal Article BMC Genet · December 31, 2003 BACKGROUND: We analyzed the Genetic Analysis Workshop 13 (GAW13) simulated data to contrast and compare different methods for the genetic linkage analysis of hypertension and change in blood pressure over time. We also examined methods for incorporating co ... Full text Link to item Cite

A genomic screen of essential tremor.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

Examination of VCAM1 as a modulator of stroke risk in sickle cell disease

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

B-CAM/LU modifies sickle cell disease severity

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

A Genomic screen reveals evidence for novel SPG loci.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · November 1, 2003 Link to item Cite

Identification of MeCP2 mutations in a series of females with autistic disorder.

Journal Article Pediatr Neurol · March 2003 Rett disorder and autistic disorder are both pervasive developmental disorders. Recent studies indicate that at least 80% of Rett Disorder cases are caused by mutations in the methyl-CpG-binding protein 2 (MeCP2) gene. Since there is some phenotypic overla ... Full text Link to item Cite

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10).

Journal Article Am J Hum Genet · November 2002 We have identified a missense mutation in the motor domain of the neuronal kinesin heavy chain gene KIF5A, in a family with hereditary spastic paraplegia. The mutation occurs in the family in which the SPG10 locus was originally identified, at an invariant ... Full text Link to item Cite

A kinesin heavy chain (KIF5A) mutation in Hereditary Spastic Paraplegia (SPG10).

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2002 Link to item Cite

Examination of dementia of the Alzheimer type in the Amish

Conference NEUROBIOLOGY OF AGING · July 1, 2002 Link to item Cite

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder.

Journal Article Am J Hum Genet · April 2002 Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant disturbances in social, communicative, and behavioral functioning. A two-stage genomic screen analysis of 99 families with AutD revealed suggestive evidence for linkage ... Full text Link to item Cite

Can lay-led walking programmes increase physical activity in middle aged adults? A randomised controlled trial.

Journal Article J Epidemiol Community Health · April 2002 STUDY OBJECTIVE: To compare health walks, a community based lay-led walking scheme versus advice only on physical activity and cardiovascular health status in middle aged adults. DESIGN: Randomised controlled trial with one year follow up. Physical activit ... Full text Link to item Cite

Genomic screen and follow-up analysis for autistic disorder.

Journal Article Am J Med Genet · January 8, 2002 Autistic disorder (AutD) is a neurodevelopmental disorder characterized by significant impairment in social, communicative, and behavioral functioning. A genetic basis for AutD is well established with as many as 10 genes postulated to contribute to its un ... Full text Link to item Cite

No association between the WNT2 gene and autistic disorder.

Journal Article Am J Med Genet · January 8, 2002 Autistic disorder is a pervasive neurodevelopmental disorder characterized by deficits in language and social communication, as well as stereotyped patterns of behavior. Peak LOD scores from several genomic screening efforts indicate the presence of an aut ... Full text Link to item Cite

Analysis of genetic risk factors for autistic disorder on Chromosome 7

Journal Article American Journal of Medical Genetics - Neuropsychiatric Genetics · October 8, 2001 Several genomic screening efforts have indicated the presence of an autistic disorder (AutD) susceptibility locus within the distal long arm of human Chromosome 7. Recent reports (Wassink et al., 2001; Persico et al., 2001) suggest two genes, WNT2 at 7q31 ... Cite

Phenotypic homogeneity provides increased support for linkage on chromosome 2 in autistic disorder

Journal Article American Journal of Medical Genetics - Neuropsychiatric Genetics · October 8, 2001 A two-stage genomic screen analysis of 99 autistic disorder (AutD) families revealed suggestive evidence for linkage to chromosome 2q (D2S116 MLS (nonparametric sibpair LOD score) = 1.12 at 198 cM) (Shao 2001). In addition analysis of linkage disequilibriu ... Cite

Screening for MECP2 mutations in females with autistic disorder

Journal Article American Journal of Medical Genetics - Neuropsychiatric Genetics · October 8, 2001 Autistic Disorder (AD) and Rett Disorder (RD) are both Pervasive Developmental Disorders. Recently, it was discovered that mutations in the MECP2 gene cause RD. Because of the phenotypic similarity between RD and AD, we screened 69 females in families asce ... Cite

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.

Journal Article Am J Hum Genet · May 2001 Pure hereditary spastic paraplegia (SPG) type 4 is the most common form of autosomal dominant hereditary SPG, a neurodegenerative disease characterized primarily by hyperreflexia and progressive spasticity of the lower limbs. It is caused by mutations in t ... Full text Link to item Cite

Fine mapping and genetic heterogeneity in the pure form of autosomal dominant familial spastic paraplegia.

Journal Article Neurogenetics · March 2001 We evaluated seven families segregating pure, autosomal dominant familial spastic paraplegia (SPG) for linkage to four recently identified SPG loci on chromosomes 2q (1), 8q (2), 12q (3), and 19q (4). These families were previously shown to be unlinked to ... Full text Link to item Cite

Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study.

Journal Article Genet Med · 2001 PURPOSE: Population-based surveillance of children aged 3-10 years from metropolitan Atlanta was used to determine if stroke-related neurological damage in children with sickle cell disease (SCD) is associated with developmental disabilities (DD). METHODS: ... Full text Link to item Cite

A genomic screen for dementia in an extended Amish family.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Isolation and analysis of Autism candidate genes on 7q.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

CpG island and gene mapping in the Austistic Disorder region on chromosome 15q11-13.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2000 Link to item Cite

Identification of autism susceptibility candidates on 7q

Journal Article American Journal of Medical Genetics - Neuropsychiatric Genetics · August 7, 2000 Autism is a progressive developmental disorder characterized by deficits in language and social communication, as well as stereotyped patterns of behavior. Peak LOD scores from several genomic screening efforts (IMGSAC, 1998; Bass et al., 1998; Philippe et ... Cite

Combined analysis of data on chromosome 7q from three autism genome scans

Journal Article American Journal of Medical Genetics - Neuropsychiatric Genetics · August 7, 2000 Several different genome-wide scans for autism have produced signals on chromosome 7q, spanning an aggregate region 68 cM wide. Three studies, CLSA (n=75), Mt. Sinai (n=89), and Duke (n=79), agreed to reanalyze their ASP data by estimating % sharing and as ... Cite

Sickle hemoglobin (HbS) allele and sickle cell disease: a HuGE review.

Journal Article Am J Epidemiol · May 1, 2000 Sickle cell disease is caused by a variant of the beta-globin gene called sickle hemoglobin (Hb S). Inherited autosomal recessively, either two copies of Hb S or one copy of Hb S plus another beta-globin variant (such as Hb C) are required for disease expr ... Full text Link to item Cite

Genetic studies of autistic disorder and chromosome 7.

Journal Article Genomics · November 1, 1999 Genome-wide scans have suggested that a locus on 7q is involved in the etiology of autistic disorder (AD). We have identified an AD family in which three sibs inherited from their mother a paracentric inversion in the chromosome 7 candidate region (inv(7)( ... Full text Link to item Cite

Evidence for a paternal effect on chromosome 7 in Autistic Disorder.

Conference AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 1999 Link to item Cite

Autistic disorder and chromosome 7: Evidence for a paternal effect.

Conference MOLECULAR PSYCHIATRY · September 1, 1999 Link to item Cite

Complete genomic screen for disease susceptibility loci in nuclear families.

Journal Article Genet Epidemiol · 1999 We performed genome-wide model dependent and independent analyses on a simulated data set of 400 families segregating for a rare disorder. Regions on chromosomes 1, 3, and 5 were consistently indicated across the various analyses performed. Follow-up analy ... Full text Link to item Cite

Examination of factors associated with instability of the FMR1 CGG repeat.

Journal Article Am J Hum Genet · September 1998 We examined premutation-female transmissions and premutation-male transmissions of the FMR1 CGG repeat to carrier offspring, to identify factors associated with instability of the repeat. First we investigated associations between parental and offspring re ... Full text Link to item Cite

Testing for contributions of mitochondrial DNA mutations to complex diseases.

Journal Article Genet Epidemiol · 1998 Several complex disorders are suspected of being associated with mitochondrial DNA (mtDNA) mutations. We studied the statistical properties of a test based on proband-relative pairs to identify potential mtDNA mutation involvement in a complex disorder. Th ... Full text Link to item Cite

Sequential sib-pair and association studies to detect genes in quantitative traits.

Journal Article Genet Epidemiol · 1997 We applied sib-pair and association methods to a GAW data set of nuclear families with quantitative traits. Our approaches included 1) preliminary statistical studies including correlations and linear regressions, 2) sib-pair methods, and 3) association st ... Full text Link to item Cite

Familial transmission of the FMR1 CGG repeat.

Journal Article Am J Hum Genet · December 1996 To better define the nature of FMR1 CGG-repeat expansions, changes in allele sizes for 191 families with fragile X and for 33 families with gray-zone repeats (40-60) were analyzed. Expansion of the fragile X chromosome to the full mutation was seen in 13.4 ... Link to item Cite

Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population.

Journal Article Am J Med Genet · August 9, 1996 To begin to understand the population dynamics of the fragile X (FRAXA) mutation and to learn more about the fragile X E (FRAXE) syndrome, we have initiated a surve of children in special needs education programs in the public school system. With respect t ... Full text Link to item Cite

Examination of factors that influence the expansion of the fragile X mutation in a sample of conceptuses from known carrier females.

Journal Article Am J Med Genet · August 9, 1996 The Collaborative Prospective Fragile X Study was established to collect information on the pregnancy outcome of women known to be carriers of the fragile X syndrome. The prospective design of this study allows collection of ascertainment-free data and, th ... Full text Link to item Cite

Population dynamics of a meiotic/mitotic expansion model for the fragile X syndrome.

Journal Article Am J Hum Genet · December 1995 A model to explain the mutational process and population dynamics of the fragile X syndrome is presented. The mutational mechanism was assumed to be a multipathway, multistep process. Expansion of CGG repeats was based on an underlying biological process a ... Link to item Cite

Identification of susceptibility loci contributing to a complex disease using conventional segregation, linkage, and association methods.

Journal Article Genet Epidemiol · 1995 We set out to apply conventional analytic methods to a GAW data set of nuclear families with an oligogenic disease that has a population prevalence of 0.023. We chose methods generally applied to disorders with at least one major gene. Our approaches inclu ... Full text Link to item Cite

Presymptomatic and prenatal diagnosis in myotonic dystrophy by genetic linkage studies.

Journal Article Neurology · April 1990 Myotonic dystrophy (DM) is an autosomal dominant disorder with age-dependent penetrance and extremely variable expressivity. With the genetic markers CKMM and ApoC2, both of which are tightly linked and centromeric to DM, presymptomatic and prenatal diagno ... Full text Link to item Cite