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Elizabeth Rebecca Hauser

Professor of Biostatistics & Bioinformatics
Biostatistics & Bioinformatics
Duke Box 104775, Durham, NC 27708
300 N Duke St, Rm 47-121 Carmichael Bldg, Durham, NC 27701

Selected Publications


Military exposures and Gulf War illness in veterans with and without posttraumatic stress disorder.

Journal Article J Trauma Stress · February 2024 Gulf War illness (GWI) is a chronic multisymptom disorder of unknown etiology that is believed to be caused by neurotoxicant exposure experienced during deployment to the Gulf War. Posttraumatic stress disorder (PTSD) covaries with GWI and is believed to p ... Full text Link to item Cite

The Million Veteran Program 1990-1991 Gulf War Era Survey: An Evaluation of Veteran Response, Characteristics, and Representativeness of the Gulf War Era Veteran Population.

Journal Article Int J Environ Res Public Health · January 8, 2024 To address gaps in understanding the pathophysiology of Gulf War Illness (GWI), the VA Million Veteran Program (MVP) developed and implemented a survey to MVP enrollees who served in the U.S. military during the 1990-1991 Persian Gulf War (GW). Eligible Ve ... Full text Link to item Cite

Genome-Wide Association Study of Chronic Dizziness in the Elderly Identifies Loci Implicating MLLT10, BPTF, LINC01224, and ROS1.

Journal Article J Assoc Res Otolaryngol · December 2023 PURPOSE: Chronic age-related imbalance is a common cause of falls and subsequent death in the elderly and can arise from dysfunction of the vestibular system, an elegant neuroanatomical group of pathways that mediates human perception of acceleration, grav ... Full text Link to item Cite

Association of Atherosclerotic Cardiovascular Disease, Hypertension, Diabetes, and Hyperlipidemia With Gulf War Illness Among Gulf War Veterans.

Journal Article J Am Heart Assoc · October 3, 2023 BACKGROUND: Approximately 30% of the 700 000 Gulf War veterans report a chronic symptom-based illness of varying severity referred to as Gulf War illness (GWI). Toxic deployment-related exposures have been implicated in the cause of GWI, some of which cont ... Full text Link to item Cite

Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations.

Journal Article Nat Commun · October 2, 2023 Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in no ... 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

Modeling the longitudinal changes of ancestry diversity in the Million Veteran Program.

Journal Article Hum Genomics · June 2, 2023 BACKGROUND: The Million Veteran Program (MVP) participants represent 100 years of US history, including significant social and demographic changes over time. Our study assessed two aspects of the MVP: (i) longitudinal changes in population diversity and (i ... Full text Link to item Cite

Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts.

Journal Article Am J Hum Genet · June 1, 2023 Previous studies have hypothesized that autozygosity is decreasing over generational time. However, these studies were limited to relatively small samples (n < 11,000) lacking in diversity, which may limit the generalizability of their findings. We present ... Full text Link to item Cite

A Cluster Randomized Trial of a Family Health History Platform to Identify and Manage Patients at Increased Risk for Colorectal Cancer.

Journal Article J Gen Intern Med · May 2023 BACKGROUND: Obtaining comprehensive family health history (FHH) to inform colorectal cancer (CRC) risk management in primary care settings is challenging. OBJECTIVE: To examine the effectiveness of a patient-facing FHH platform to identify and manage patie ... Full text Link to item Cite

Self-reported gastrointestinal disorders among veterans with gulf war illness with and without posttraumatic stress disorder.

Journal Article Neurogastroenterol Motil · May 2023 BACKGROUND: Gulf War Illness (GWI) is a chronic, multi-symptom disorder affecting 25%-32% of Gulf War veterans. Veterans with GWI disproportionately suffer from gastrointestinal (GI) disorders. Given the increasing evidence supporting a gut-brain axis, we ... Full text Link to item Cite

Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort.

Journal Article Cancer Epidemiol Biomarkers Prev · March 6, 2023 BACKGROUND: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. T ... Full text Link to item Cite

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.

Journal Article Autism Res · March 2023 Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We ... Full text Open Access 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

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

Journal Article JAMA Psychiatry · February 1, 2023 IMPORTANCE: Suicide is a leading cause of death; however, the molecular genetic basis of suicidal thoughts and behaviors (SITB) remains unknown. OBJECTIVE: To identify novel, replicable genomic risk loci for SITB. DESIGN, SETTING, AND PARTICIPANTS: This ge ... Full text Link to item Cite

Effect of behavioral weight-loss program on biomarkers of cardiometabolic disease risk: Heart Health Study randomized trial.

Journal Article Obesity (Silver Spring) · February 2023 OBJECTIVE: This study aimed to determine whether novel biomarkers of cardiometabolic health improve in response to a 12-month behavioral weight-loss intervention and to compare benefits of diet alone with diet plus physical activity for these biomarkers. M ... Full text Open Access Link to item Cite

Association of Gulf War Illness with Characteristics in Deployed vs. Non-Deployed Gulf War Era Veterans in the Cooperative Studies Program 2006/Million Veteran Program 029 Cohort: A Cross-Sectional Analysis.

Journal Article Int J Environ Res Public Health · December 24, 2022 Gulf War Illness (GWI), a chronic multisymptom illness with a complex and uncertain etiology and pathophysiology, is highly prevalent among veterans deployed to the 1990-1991 GW. We examined how GWI phenotypes varied by demographic and military characteris ... Full text Link to item Cite

Establishment of multi-stage intravenous self-administration paradigms in mice.

Journal Article Sci Rep · December 11, 2022 Genetically tractable animal models provide needed strategies to resolve the biological basis of drug addiction. Intravenous self-administration (IVSA) is the gold standard for modeling psychostimulant and opioid addiction in animals, but technical limitat ... Full text Link to item Cite

The association of accelerated epigenetic age with all-cause mortality in cardiac catheterization patients as mediated by vascular and cardiometabolic outcomes.

Journal Article Clin Epigenetics · December 3, 2022 BACKGROUND: Epigenetic age is a DNA methylation-based biomarker of aging that is accurate across the lifespan and a range of cell types. The difference between epigenetic age and chronological age, termed age acceleration (AA), is a strong predictor of lif ... Full text Open Access Link to item Cite

Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture.

Journal Article Circ Genom Precis Med · December 2022 BACKGROUND: The risk of arterial diseases may be elevated among family members of individuals having multifocal fibromuscular dysplasia (FMD). We sought to investigate the risk of arterial diseases in families of individuals with FMD. METHODS: Family histo ... Full text Link to item Cite

Exposures to low-levels of fine particulate matter are associated with acute changes in heart rate variability, cardiac repolarization, and circulating blood lipids in coronary artery disease patients.

Journal Article Environ Res · November 2022 Exposure to air pollution is a major risk factor for cardiovascular disease, disease risk factors, and mortality. Specifically, particulate matter (PM), and to some extent ozone, are contributors to these effects. In addition, exposures to these pollutants ... Full text Link to item Cite

Military exposures and Gulf War illness in veterans with and without posttraumatic stress disorder.

Journal Article J Trauma Stress · February 2024 Gulf War illness (GWI) is a chronic multisymptom disorder of unknown etiology that is believed to be caused by neurotoxicant exposure experienced during deployment to the Gulf War. Posttraumatic stress disorder (PTSD) covaries with GWI and is believed to p ... Full text Link to item Cite

The Million Veteran Program 1990-1991 Gulf War Era Survey: An Evaluation of Veteran Response, Characteristics, and Representativeness of the Gulf War Era Veteran Population.

Journal Article Int J Environ Res Public Health · January 8, 2024 To address gaps in understanding the pathophysiology of Gulf War Illness (GWI), the VA Million Veteran Program (MVP) developed and implemented a survey to MVP enrollees who served in the U.S. military during the 1990-1991 Persian Gulf War (GW). Eligible Ve ... Full text Link to item Cite

Genome-Wide Association Study of Chronic Dizziness in the Elderly Identifies Loci Implicating MLLT10, BPTF, LINC01224, and ROS1.

Journal Article J Assoc Res Otolaryngol · December 2023 PURPOSE: Chronic age-related imbalance is a common cause of falls and subsequent death in the elderly and can arise from dysfunction of the vestibular system, an elegant neuroanatomical group of pathways that mediates human perception of acceleration, grav ... Full text Link to item Cite

Association of Atherosclerotic Cardiovascular Disease, Hypertension, Diabetes, and Hyperlipidemia With Gulf War Illness Among Gulf War Veterans.

Journal Article J Am Heart Assoc · October 3, 2023 BACKGROUND: Approximately 30% of the 700 000 Gulf War veterans report a chronic symptom-based illness of varying severity referred to as Gulf War illness (GWI). Toxic deployment-related exposures have been implicated in the cause of GWI, some of which cont ... Full text Link to item Cite

Combining Asian and European genome-wide association studies of colorectal cancer improves risk prediction across racial and ethnic populations.

Journal Article Nat Commun · October 2, 2023 Polygenic risk scores (PRS) have great potential to guide precision colorectal cancer (CRC) prevention by identifying those at higher risk to undertake targeted screening. However, current PRS using European ancestry data have sub-optimal performance in no ... 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

Modeling the longitudinal changes of ancestry diversity in the Million Veteran Program.

Journal Article Hum Genomics · June 2, 2023 BACKGROUND: The Million Veteran Program (MVP) participants represent 100 years of US history, including significant social and demographic changes over time. Our study assessed two aspects of the MVP: (i) longitudinal changes in population diversity and (i ... Full text Link to item Cite

Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts.

Journal Article Am J Hum Genet · June 1, 2023 Previous studies have hypothesized that autozygosity is decreasing over generational time. However, these studies were limited to relatively small samples (n < 11,000) lacking in diversity, which may limit the generalizability of their findings. We present ... Full text Link to item Cite

A Cluster Randomized Trial of a Family Health History Platform to Identify and Manage Patients at Increased Risk for Colorectal Cancer.

Journal Article J Gen Intern Med · May 2023 BACKGROUND: Obtaining comprehensive family health history (FHH) to inform colorectal cancer (CRC) risk management in primary care settings is challenging. OBJECTIVE: To examine the effectiveness of a patient-facing FHH platform to identify and manage patie ... Full text Link to item Cite

Self-reported gastrointestinal disorders among veterans with gulf war illness with and without posttraumatic stress disorder.

Journal Article Neurogastroenterol Motil · May 2023 BACKGROUND: Gulf War Illness (GWI) is a chronic, multi-symptom disorder affecting 25%-32% of Gulf War veterans. Veterans with GWI disproportionately suffer from gastrointestinal (GI) disorders. Given the increasing evidence supporting a gut-brain axis, we ... Full text Link to item Cite

Validation of a Genetic-Enhanced Risk Prediction Model for Colorectal Cancer in a Large Community-Based Cohort.

Journal Article Cancer Epidemiol Biomarkers Prev · March 6, 2023 BACKGROUND: Polygenic risk scores (PRS) which summarize individuals' genetic risk profile may enhance targeted colorectal cancer screening. A critical step towards clinical implementation is rigorous external validations in large community-based cohorts. T ... Full text Link to item Cite

Genetic and epigenetic signatures associated with plasma oxytocin levels in children and adolescents with autism spectrum disorder.

Journal Article Autism Res · March 2023 Oxytocin (OT), the brain's most abundant neuropeptide, plays an important role in social salience and motivation. Clinical trials of the efficacy of OT in autism spectrum disorder (ASD) have reported mixed results due in part to ASD's complex etiology. We ... Full text Open Access 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

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

Journal Article JAMA Psychiatry · February 1, 2023 IMPORTANCE: Suicide is a leading cause of death; however, the molecular genetic basis of suicidal thoughts and behaviors (SITB) remains unknown. OBJECTIVE: To identify novel, replicable genomic risk loci for SITB. DESIGN, SETTING, AND PARTICIPANTS: This ge ... Full text Link to item Cite

Effect of behavioral weight-loss program on biomarkers of cardiometabolic disease risk: Heart Health Study randomized trial.

Journal Article Obesity (Silver Spring) · February 2023 OBJECTIVE: This study aimed to determine whether novel biomarkers of cardiometabolic health improve in response to a 12-month behavioral weight-loss intervention and to compare benefits of diet alone with diet plus physical activity for these biomarkers. M ... Full text Open Access Link to item Cite

Association of Gulf War Illness with Characteristics in Deployed vs. Non-Deployed Gulf War Era Veterans in the Cooperative Studies Program 2006/Million Veteran Program 029 Cohort: A Cross-Sectional Analysis.

Journal Article Int J Environ Res Public Health · December 24, 2022 Gulf War Illness (GWI), a chronic multisymptom illness with a complex and uncertain etiology and pathophysiology, is highly prevalent among veterans deployed to the 1990-1991 GW. We examined how GWI phenotypes varied by demographic and military characteris ... Full text Link to item Cite

Establishment of multi-stage intravenous self-administration paradigms in mice.

Journal Article Sci Rep · December 11, 2022 Genetically tractable animal models provide needed strategies to resolve the biological basis of drug addiction. Intravenous self-administration (IVSA) is the gold standard for modeling psychostimulant and opioid addiction in animals, but technical limitat ... Full text Link to item Cite

The association of accelerated epigenetic age with all-cause mortality in cardiac catheterization patients as mediated by vascular and cardiometabolic outcomes.

Journal Article Clin Epigenetics · December 3, 2022 BACKGROUND: Epigenetic age is a DNA methylation-based biomarker of aging that is accurate across the lifespan and a range of cell types. The difference between epigenetic age and chronological age, termed age acceleration (AA), is a strong predictor of lif ... Full text Open Access Link to item Cite

Fibromuscular Dysplasia and Abdominal Aortic Aneurysms Are Dimorphic Sex-Specific Diseases With Shared Complex Genetic Architecture.

Journal Article Circ Genom Precis Med · December 2022 BACKGROUND: The risk of arterial diseases may be elevated among family members of individuals having multifocal fibromuscular dysplasia (FMD). We sought to investigate the risk of arterial diseases in families of individuals with FMD. METHODS: Family histo ... Full text Link to item Cite

Exposures to low-levels of fine particulate matter are associated with acute changes in heart rate variability, cardiac repolarization, and circulating blood lipids in coronary artery disease patients.

Journal Article Environ Res · November 2022 Exposure to air pollution is a major risk factor for cardiovascular disease, disease risk factors, and mortality. Specifically, particulate matter (PM), and to some extent ozone, are contributors to these effects. In addition, exposures to these pollutants ... Full text Link to item Cite

Glaucoma Genetic Risk Scores in the Million Veteran Program.

Journal Article Ophthalmology · November 2022 PURPOSE: Primary open-angle glaucoma (POAG) is a degenerative eye disease for which early treatment is critical to mitigate visual impairment and irreversible blindness. POAG-associated loci individually confer incremental risk. Genetic risk score(s) (GRS) ... Full text Link to item Cite

Longitudinal assessment of colonoscopy adverse events in the prospective Cooperative Studies Program no. 380 colorectal cancer screening and surveillance cohort.

Journal Article Gastrointest Endosc · September 2022 BACKGROUND AND AIMS: Data are limited regarding colonoscopy risk during long-term, programmatic colorectal cancer screening and follow-up. We aimed to describe adverse events during follow-up in a colonoscopy screening program after the baseline examinatio ... Full text Link to item Cite

Large-scale genome-wide association study of coronary artery disease in genetically diverse populations.

Journal Article Nat Med · August 2022 We report a genome-wide association study (GWAS) of coronary artery disease (CAD) incorporating nearly a quarter of a million cases, in which existing studies are integrated with data from cohorts of white, Black and Hispanic individuals from the Million V ... Full text Link to item Cite

Identifying intragenic functional modules of genomic variations associated with cancer phenotypes by learning representation of association networks.

Journal Article BMC Med Genomics · July 6, 2022 BACKGROUND: Genome-wide Association Studies (GWAS) aims to uncover the link between genomic variation and phenotype. They have been actively applied in cancer biology to investigate associations between variations and cancer phenotypes, such as susceptibil ... Full text Link to item Cite

Ten or More Cumulative Lifetime Adenomas Are Associated with Increased Risk for Advanced Neoplasia and Colorectal Cancer.

Journal Article Dig Dis Sci · June 2022 BACKGROUND: Colorectal cancer (CRC) screening guidelines recommend frequent colonoscopies and consideration of genetic testing in individuals with ≥10 cumulative adenomas. However, it is unclear how these guidelines apply to routine practice. AIMS: We esti ... Full text Link to item Cite

A multi-population phenome-wide association study of genetically-predicted height in the Million Veteran Program.

Journal Article PLoS Genet · June 2022 BACKGROUND: Height has been associated with many clinical traits but whether such associations are causal versus secondary to confounding remains unclear in many cases. To systematically examine this question, we performed a Mendelian Randomization-Phenome ... Full text Link to item Cite

Rheumatoid arthritis T cell and muscle oxidative metabolism associate with exercise-induced changes in cardiorespiratory fitness.

Journal Article Sci Rep · May 6, 2022 Rheumatoid arthritis (RA) T cells drive autoimmune features via metabolic reprogramming that reduces oxidative metabolism. Exercise training improves cardiorespiratory fitness (i.e., systemic oxidative metabolism) and thus may impact RA T cell oxidative me ... Full text Link to item Cite

Sex-dimorphic gene effects on survival outcomes in people with coronary artery disease.

Journal Article Am Heart J Plus · May 2022 BACKGROUND: Ischemic coronary heart disease (IHD) is the leading cause of death worldwide. Genetic variation is presumed to be a major factor underlying sex differences for IHD events, including mortality. The purpose of this study was to identify sex-spec ... Full text Link to item Cite

Health-Related Quality of Life by Gulf War Illness Case Status.

Journal Article Int J Environ Res Public Health · April 7, 2022 This study examines how health-related quality of life (HRQOL) and related indices vary by Gulf War illness (GWI) case status. The study population included veterans from the Gulf War Era Cohort and Biorepository (n = 1116). Outcomes were physical and ment ... Full text Link to item Cite

APOL1 Risk Variants, Acute Kidney Injury, and Death in Participants With African Ancestry Hospitalized With COVID-19 From the Million Veteran Program.

Journal Article JAMA Intern Med · April 1, 2022 IMPORTANCE: Coronavirus disease 2019 (COVID-19) confers significant risk of acute kidney injury (AKI). Patients with COVID-19 with AKI have high mortality rates. OBJECTIVE: Individuals with African ancestry with 2 copies of apolipoprotein L1 (APOL1) varian ... Full text Link to item Cite

Screening Colonoscopy Findings Are Associated With Noncolorectal Cancer Mortality.

Journal Article Clin Transl Gastroenterol · April 1, 2022 INTRODUCTION: Controversy exists regarding the impact of various risk factors on noncolorectal cancer (CRC) mortality in healthy screening populations. We examined the impact of known CRC risk factors, including baseline colonoscopy findings, on non-CRC mo ... 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

Drebrin attenuates atherosclerosis by limiting smooth muscle cell transdifferentiation.

Journal Article Cardiovasc Res · February 21, 2022 AIMS: The F-actin-binding protein Drebrin inhibits smooth muscle cell (SMC) migration, proliferation, and pro-inflammatory signalling. Therefore, we tested the hypothesis that Drebrin constrains atherosclerosis. METHODS AND RESULTS: SM22-Cre+/Dbnflox/flox/ ... Full text Open Access 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

Associations between neighborhood socioeconomic cluster and hypertension, diabetes, myocardial infarction, and coronary artery disease within a cohort of cardiac catheterization patients.

Journal Article Am Heart J · January 2022 BACKGROUND: Neighborhood-level socioeconomic status (SES) is associated with health outcomes, including cardiovascular disease and diabetes, but these associations are rarely studied across large, diverse populations. METHODS: We used Ward's Hierarchical c ... Full text Link to item Cite

Association of Gulf War Illness-Related Symptoms with Military Exposures among 1990–1991 Gulf War Veterans Evaluated at the War-Related Illness and Injury Study Center (WRIISC)

Journal Article Brain Sciences · 2022 Veterans with difficult-to-diagnose conditions who receive care in the Department of Veterans Affairs (VA) healthcare system can be referred for evaluation at one of three specialty VA War-Related Illness and Injury Study Centers (WRIISC). Veterans ... Full text Cite

Determinants of Dropout from and Variation in Adherence to an Exercise Intervention: The STRRIDE Randomized Trials.

Journal Article Transl J Am Coll Sports Med · 2022 PURPOSE: This study aimed to characterize the timing and self-reported determinants of exercise dropout among sedentary adults with overweight or obesity. We also sought to explore variations in adherence among individuals who completed a 6- to 8-month str ... Full text Link to item Cite

Gene-Toxicant Interactions in Gulf War Illness: Differential Effects of the PON1 Genotype.

Journal Article Brain Sci · November 25, 2021 About 25-35% of United States veterans who fought in the 1990-1991 Gulf War report several moderate or severe chronic systemic symptoms, defined as Gulf War illness (GWI). Thirty years later, there is little consensus on the causes or biological underpinni ... Full text Link to item Cite

Research tool for classifying Gulf War illness using survey responses: Lessons for writing replicable algorithms for symptom-based conditions.

Journal Article Life Sci · October 1, 2021 AIMS: Gulf War illness (GWI), a chronic symptom-based disorder, affects up to 30% of Veterans who served in the 1990-1991 Gulf War1. Because no diagnostic test or code for GWI exists, researchers typically determine case status using self-reported symptoms ... Full text Link to item Cite

Gulf War illness in the Gulf War Era Cohort and Biorepository: The Kansas and Centers for Disease Control definitions.

Journal Article Life Sci · August 1, 2021 AIMS: This study characterizes Gulf War Illness (GWI) among U.S. veterans who participated in the Gulf War Era Cohort and Biorepository (GWECB). MAIN METHODS: Mailed questionnaires were collected between 2014 and 2016. Self-reported GWI symptoms, symptom d ... Full text Link to item Cite

Genomics of Gulf War Illness in U.S. Veterans Who Served during the 1990-1991 Persian Gulf War: Methods and Rationale for Veterans Affairs Cooperative Study #2006.

Journal Article Brain Sci · June 25, 2021 BACKGROUND: Approximately 697,000 members of the U.S. Armed Forces were deployed to the Persian Gulf in support of the 1990-1991 Persian Gulf War (GW). Subsequently, many deployed and some non-deployed veterans developed a chronic multi-symptom illness, no ... Full text Link to item Cite

Evaluation of PM2.5 air pollution sources and cardiovascular health.

Journal Article Environ Epidemiol · June 2021 Long-term air pollution exposure, notably fine particulate matter, is a global contributor to morbidity and mortality and a known risk factor for coronary artery disease (CAD) and myocardial infarctions (MI). Knowledge of impacts related to source-apportio ... Full text Link to item Cite

An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.

Journal Article Genome Med · May 17, 2021 BACKGROUND: While genome-wide associations studies (GWAS) have successfully elucidated the genetic architecture of complex human traits and diseases, understanding mechanisms that lead from genetic variation to pathophysiology remains an important challeng ... Full text Open Access Link to item Cite

Genetic analysis in European ancestry individuals identifies 517 loci associated with liver enzymes.

Journal Article Nat Commun · May 10, 2021 Serum concentration of hepatic enzymes are linked to liver dysfunction, metabolic and cardiovascular diseases. We perform genetic analysis on serum levels of alanine transaminase (ALT), alkaline phosphatase (ALP) and gamma-glutamyl transferase (GGT) using ... Full text Link to item Cite

Epigenome-wide association study of kidney function identifies trans-ethnic and ethnic-specific loci.

Journal Article Genome Med · April 30, 2021 BACKGROUND: DNA methylation (DNAm) is associated with gene regulation and estimated glomerular filtration rate (eGFR), a measure of kidney function. Decreased eGFR is more common among US Hispanics and African Americans. The causes for this are poorly unde ... Full text Open Access Link to item Cite

Association between short-term exposure to ambient fine particulate matter and myocardial injury in the CATHGEN cohort.

Journal Article Environ Pollut · April 15, 2021 Exposure to fine particulate matter (PM2.5) has been associated with a higher risk for coronary events. Elevated circulating cardiac troponins (cTn) are suggestive of myocardial injury in both ischemic and non-ischemic conditions. However, little is known ... Full text Link to item Cite

Characterizing chronological accumulation of comorbidities in healthy veterans: a computational approach.

Journal Article Sci Rep · April 14, 2021 Understanding patient accumulation of comorbidities can facilitate healthcare strategy and personalized preventative care. We applied a directed network graph to electronic health record (EHR) data and characterized comorbidities in a cohort of healthy vet ... Full text Open Access Link to item Cite

Genome-wide analysis identifies novel susceptibility loci for myocardial infarction.

Journal Article Eur Heart J · March 1, 2021 AIMS: While most patients with myocardial infarction (MI) have underlying coronary atherosclerosis, not all patients with coronary artery disease (CAD) develop MI. We sought to address the hypothesis that some of the genetic factors which establish atheros ... Full text Link to item Cite

Multi-trait association studies discover pleiotropic loci between Alzheimer's disease and cardiometabolic traits.

Journal Article Alzheimers Res Ther · February 4, 2021 BACKGROUND: Identification of genetic risk factors that are shared between Alzheimer's disease (AD) and other traits, i.e., pleiotropy, can help improve our understanding of the etiology of AD and potentially detect new therapeutic targets. Previous epidem ... Full text Link to item Cite

Th17 Immunity in the Colon Is Controlled by Two Novel Subsets of Colon-Specific Mononuclear Phagocytes.

Conference Front Immunol · 2021 Intestinal immunity is coordinated by specialized mononuclear phagocyte populations, constituted by a diversity of cell subsets. Although the cell subsets constituting the mononuclear phagocyte network are thought to be similar in both small and large inte ... Full text Link to item Cite

Genome-Wide Variants Associated With Longitudinal Survival Outcomes Among Individuals With Coronary Artery Disease.

Journal Article Front Genet · 2021 OBJECTIVE: Coronary artery disease (CAD) is an age-associated condition that greatly increases the risk of mortality. The purpose of this study was to identify gene variants associated with all-cause mortality among individuals with clinically phenotyped C ... Full text Link to item Cite

Corrigendum: Genome-Wide Variants Associated With Longitudinal Survival Outcomes Among Individuals With Coronary Artery Disease.

Journal Article Front Genet · 2021 [This corrects the article DOI: 10.3389/fgene.2021.661497.]. ... Full text Link to item Cite

An atlas connecting shared genetic architecture of human diseases and molecular phenotypes provides insight into COVID-19 susceptibility.

Journal Article medRxiv · December 22, 2020 While genome-wide associations studies (GWAS) have successfully elucidated the genetic architecture of complex human traits and diseases, understanding mechanisms that lead from genetic variation to pathophysiology remains an important challenge. Methods a ... Full text Link to item Cite

Accelerated epigenetic age as a biomarker of cardiovascular sensitivity to traffic-related air pollution.

Journal Article Aging (Albany NY) · December 7, 2020 BACKGROUND: Accelerated epigenetic age has been proposed as a biomarker of increased aging, which may indicate disruptions in cellular and organ system homeostasis and thus contribute to sensitivity to environmental exposures. METHODS: Using 497 participan ... Full text Open Access Link to item Cite

Dysregulated lipid and fatty acid metabolism link perfluoroalkyl substances exposure and impaired glucose metabolism in young adults.

Journal Article Environ Int · December 2020 BACKGROUND: Per- and polyfluoroalkyl substances (PFASs) exposure is ubiquitous among the US population and has been linked to adverse health outcomes including cardiometabolic diseases, immune dysregulation and endocrine disruption. However, the metabolic ... Full text Link to item Cite

Establishment of Multi-stage Intravenous Self-administration Paradigms in Mice

Journal Article · November 27, 2020 ABSTRACTA genetically tractable animal model would provide a needed strategy to resolve the biological basis of drug addiction. Intravenous self-administration (IVSA) is the gold standard for modeling cocaine and opioid add ... Full text Cite

Genetic Colorectal Cancer and Adenoma Risk Variants Are Associated with Increasing Cumulative Adenoma Counts.

Conference Cancer Epidemiol Biomarkers Prev · November 2020 BACKGROUND: The genetic basis for most individuals with high cumulative lifetime colonic adenomas is unknown. We investigated associations between known colorectal cancer-risk single-nucleotide polymorphisms (SNP) and increasing cumulative adenoma counts. ... Full text Link to item Cite

Evaluating the precision of EBF1 SNP x stress interaction association: sex, race, and age differences in a big harmonized data set of 28,026 participants.

Journal Article Transl Psychiatry · October 20, 2020 In prior work, we identified a novel gene-by-stress association of EBF1's common variation (SNP rs4704963) with obesity (i.e., hip, waist) in Whites, which was further strengthened through multiple replications using our synthetic stress measure. We now ex ... Full text Open Access Link to item Cite

High-Risk Adenomas at Screening Colonoscopy Remain Predictive of Future High-Risk Adenomas Despite an Intervening Negative Colonoscopy.

Journal Article Am J Gastroenterol · August 2020 INTRODUCTION: Limited data inform the current postpolypectomy surveillance guidelines, which suggest a shortened interval to third colonoscopy after a negative second examination if high-risk adenomas (HRA) were present on the initial screening colonoscopy ... Full text Link to item Cite

Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.

Journal Article Nat Genet · July 2020 We investigated type 2 diabetes (T2D) genetic susceptibility via multi-ancestry meta-analysis of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP), DIAMANTE, Biobank Japan and other studies. We report 568 associations, including 286 ... Full text Link to item Cite

Genotyping Array Design and Data Quality Control in the Million Veteran Program.

Journal Article Am J Hum Genet · April 2, 2020 The Million Veteran Program (MVP), initiated by the Department of Veterans Affairs (VA), aims to collect biosamples with consent from at least one million veterans. Presently, blood samples have been collected from over 800,000 enrolled participants. The s ... Full text Link to item Cite

Baseline Colonoscopy Findings Associated With 10-Year Outcomes in a Screening Cohort Undergoing Colonoscopy Surveillance.

Journal Article Gastroenterology · March 2020 BACKGROUND & AIMS: Few studies have evaluated long-term outcomes of ongoing colonoscopic screening and surveillance in a screening population. We aimed to determine the 10-year risk for advanced neoplasia (defined as adenomas ≥10mm, adenomas with villous h ... Full text Link to item Cite

Systolic Blood Pressure and Socioeconomic Status in a large multi-study population.

Journal Article SSM Popul Health · December 2019 The present study used harmonized data from eight studies (N = 28,891) to examine the association between socioeconomic status (SES) and resting systolic blood pressure (SBP). The study replicates and extends our prior work on this topic by examining poten ... Full text Open Access Link to item Cite

Advanced neoplasia in Veterans at screening colonoscopy using the National Cancer Institute Risk Assessment Tool.

Journal Article BMC Cancer · November 12, 2019 BACKGROUND: Adapting screening strategy to colorectal cancer (CRC) risk may improve efficiency for all stakeholders however limited tools for such risk stratification exist. Colorectal cancers usually evolve from advanced neoplasms that are present for yea ... Full text Link to item Cite

An electronic family health history tool to identify and manage patients at increased risk for colorectal cancer: protocol for a randomized controlled trial.

Journal Article Trials · October 7, 2019 BACKGROUND: Colorectal cancer is the fourth most commonly diagnosed cancer in the United States. Approximately 3-10% of the population has an increased risk for colorectal cancer due to family history and warrants more frequent or intensive screening. Yet, ... Full text Link to item Cite

Harmonizing Genetic Ancestry and Self-identified Race/Ethnicity in Genome-wide Association Studies.

Journal Article Am J Hum Genet · October 3, 2019 Large-scale multi-ethnic cohorts offer unprecedented opportunities to elucidate the genetic factors influencing complex traits related to health and disease among minority populations. At the same time, the genetic diversity in these cohorts presents new c ... Full text Link to item Cite

Near-roadway air pollution exposure and altered fatty acid oxidation among adolescents and young adults - The interplay with obesity.

Journal Article Environ Int · September 2019 BACKGROUND: Air pollution exposure has been shown to increase the risk of obesity and metabolic dysfunction in animal models and human studies. However, the metabolic pathways altered by air pollution exposure are unclear, especially in adolescents and you ... Full text Link to item Cite

Gender Differences in Demographic and Health Characteristics of the Million Veteran Program Cohort.

Journal Article Womens Health Issues · June 25, 2019 BACKGROUND: The Department of Veterans Affairs Million Veteran Program (MVP) is the largest ongoing cohort program of its kind, with 654,903 enrollees as of June 2018. The objectives of this study were to examine gender differences in the MVP cohort with r ... Full text Link to item Cite

Characterization of temporal relationships of comorbidities developed following cancer diagnoses in veterans.

Conference Journal of Clinical Oncology · May 20, 2019 e18049 Background: Understanding patient trajectories and common sequences of comorbidity accrual among those newly diagnosed with cancer is critical for precision approaches to care and prevention. The Veterans Affairs (VA) Coop ... Full text Cite

Neighborhood sociodemographic effects on the associations between long-term PM2.5 exposure and cardiovascular outcomes and diabetes.

Journal Article Environ Epidemiol · February 2019 INTRODUCTION: Exposure to PM2.5 air pollution and neighborhood-level sociodemographic characteristics are associated with cardiovascular disease and possibly diabetes. However, the joint effect of sociodemographics and PM2.5 on these outcomes is uncertain. ... Full text Link to item Cite

Validation of the NCI Colorectal Cancer Risk Assessment Tool for baseline advanced neoplasia in a veterans cohort.

Conference Journal of Clinical Oncology · February 1, 2019 521 Background: Tailoring screening strategy to colorectal cancer (CRC) risk may improve efficiency for all stakeholders. We applied the National Cancer Institute (NCI) CRC Risk Assessment Tool, which calculates 5-10-year, and 20 ... Full text Cite

Association of long-term PM2.5 exposure with traditional and novel lipid measures related to cardiovascular disease risk.

Journal Article Environ Int · January 2019 BACKGROUND: Fine particulate matter (PM2.5) exposure is associated with increased morbidity and mortality, particularly for cardiovascular disease. The association between long-term exposure to PM2.5 and measures of lipoprotein subfractions remains unclear ... Full text Link to item Cite

Evaluating DNA methylation age on the Illumina MethylationEPIC Bead Chip.

Journal Article PLoS One · 2019 DNA methylation age (DNAm age) has become a widely utilized epigenetic biomarker for the aging process. The Horvath method for determining DNAm age is perhaps the most widely utilized and validated DNA methylation age assessment measure. Horvath DNAm age i ... Full text Link to item Cite

The Gulf War Era Cohort and Biorepository: A Longitudinal Research Resource of Veterans of the 1990-1991 Gulf War Era.

Journal Article Am J Epidemiol · November 1, 2018 The US Department of Veterans Affairs (VA) Gulf War Era Cohort and Biorepository (GWECB) is a nationally representative longitudinal cohort of US veterans who served during the 1990-1991 Gulf War era. The GWECB combines survey data, such as demographic, he ... Full text Link to item Cite

Short-term effects of fine particulate matter and ozone on the cardiac conduction system in patients undergoing cardiac catheterization.

Journal Article Part Fibre Toxicol · October 11, 2018 BACKGROUND: Air pollution-induced changes in cardiac electrophysiological properties could be a pathway linking air pollution and cardiovascular events. The evidence of air pollution effects on the cardiac conduction system is incomplete yet. We investigat ... Full text Link to item Cite

Association of Interleukin 6 Receptor Variant With Cardiovascular Disease Effects of Interleukin 6 Receptor Blocking Therapy: A Phenome-Wide Association Study.

Journal Article JAMA Cardiol · September 1, 2018 IMPORTANCE: Electronic health record (EHR) biobanks containing clinical and genomic data on large numbers of individuals have great potential to inform drug discovery. Individuals with interleukin 6 receptor (IL6R) single-nucleotide polymorphisms (SNPs) wh ... Full text Link to item Cite

Sex Differences in Genetic Associations With Longevity.

Journal Article JAMA Netw Open · August 2018 IMPORTANCE: Sex differences in genetic associations with human longevity remain largely unknown; investigations on this topic are important for individualized health care. OBJECTIVE: To explore sex differences in genetic associations with longevity. DESIGN ... Full text Link to item Cite

Developing a synthetic psychosocial stress measure and harmonizing CVD-risk data: a way forward to GxE meta- and mega-analyses.

Journal Article BMC Res Notes · July 24, 2018 OBJECTIVES: Among many challenges in cardiovascular disease (CVD) risk prediction are interactions of genes with stress, race, and/or sex and developing robust estimates of these interactions. Improved power with larger sample size contributed by the accum ... Full text Link to item Cite

Associations Between Residential Proximity to Traffic and Vascular Disease in a Cardiac Catheterization Cohort.

Journal Article Arterioscler Thromb Vasc Biol · January 2018 OBJECTIVE: Exposure to mobile source emissions is nearly ubiquitous in developed nations and is associated with multiple adverse health outcomes. There is an ongoing need to understand the specificity of traffic exposure associations with vascular outcomes ... Full text Link to item Cite

Genetic Variation in Acid Ceramidase Predicts Non-completion of an Exercise Intervention.

Journal Article Front Physiol · 2018 Genetic variation is associated with a number of lifestyle behaviours; it may be associated with adherence and individual responses to exercise training. We tested single nucleotide polymorphisms (SNPs) in the acid ceramidase gene (ASAH1) for association w ... Full text Link to item Cite

KCNJ11 variants and their effect on the association between serum potassium and diabetes risk in the Atherosclerosis Risk in Communities (ARIC) Study and Jackson Heart Study (JHS) cohorts.

Journal Article PLoS One · 2018 BACKGROUND: In the Atherosclerosis Risk in Communities (ARIC) Study and Jackson Heart Study (JHS) cohorts, serum potassium (K) is an independent predictor of diabetes risk, particularly among African-American participants. Experimental studies show that se ... Full text Link to item Cite

Lack of Association of a Functional Polymorphism in the Serotonin Receptor Gene With Body Mass Index and Depressive Symptoms in a Large Meta-Analysis of Population Based Studies.

Journal Article Front Genet · 2018 The serotonin receptor 5-HTR2C is thought to be involved in the function of multiple brain structures. Consequently, the HTR2C gene has been studied extensively with respect to its association with a variety of phenotypes. One coding variant in the HTR2C g ... Full text Open Access Link to item Cite

Ozone exposure is associated with acute changes in inflammation, fibrinolysis, and endothelial cell function in coronary artery disease patients.

Journal Article Environ Health · November 21, 2017 BACKGROUND: Air pollution is a major risk factor for cardiovascular disease, of which ozone is a major contributor. Several studies have found associations between ozone and cardiovascular morbidity, but the results have been inconclusive. We investigated ... Full text Link to item Cite

Fine particulate matter and cardiovascular disease: Comparison of assessment methods for long-term exposure.

Journal Article Environ Res · November 2017 BACKGROUND: Adverse cardiovascular events have been linked with PM2.5 exposure obtained primarily from air quality monitors, which rarely co-locate with participant residences. Modeled PM2.5 predictions at finer resolution may more accurately predict resid ... Full text Link to item Cite

Interleukin-9 mediates chronic kidney disease-dependent vein graft disease: a role for mast cells.

Journal Article Cardiovasc Res · November 1, 2017 AIMS: Chronic kidney disease (CKD) is a powerful independent risk factor for cardiovascular events, including vein graft failure. Because CKD impairs the clearance of small proteins, we tested the hypothesis that CKD exacerbates vein graft disease by eleva ... Full text Open Access Link to item Cite

Recommendations for Improving Identification and Quantification in Non-Targeted, GC-MS-Based Metabolomic Profiling of Human Plasma.

Journal Article Metabolites · August 25, 2017 The field of metabolomics as applied to human disease and health is rapidly expanding. In recent efforts of metabolomics research, greater emphasis has been placed on quality control and method validation. In this study, we report an experience with qualit ... Full text Link to item Cite

Brain-derived neurotrophic factor rs6265 (Val66Met) polymorphism is associated with disease severity and incidence of cardiovascular events in a patient cohort.

Journal Article Am Heart J · August 2017 BACKGROUND: The rs6265 (Val66Met) single-nucleotide polymorphism in the BDNF gene has been related to a number of endophenotypes that have in turn been shown to confer risk for atherosclerotic cardiovascular disease (CVD). To date, however, very few studie ... Full text Link to item Cite

Validation of the NCI colorectal cancer risk assessment tool in the CSP 380 veterans cohort.

Conference Journal of Clinical Oncology · May 20, 2017 e15135 Background: Refining screening to colorectal cancer (CRC) risk may promote screening effectiveness. We applied the National Cancer Institute (NCI) CRC Risk Assessment Tool to estimate 5- and 10-year CRC risk in an average- ... Full text Cite

A novel approach for measuring residential socioeconomic factors associated with cardiovascular and metabolic health.

Journal Article J Expo Sci Environ Epidemiol · May 2017 Individual-level characteristics, including socioeconomic status, have been associated with poor metabolic and cardiovascular health; however, residential area-level characteristics may also independently contribute to health status. In the current study, ... Full text Link to item Cite

Impact of Genetic Testing and Family Health History Based Risk Counseling on Behavior Change and Cognitive Precursors for Type 2 Diabetes.

Journal Article J Genet Couns · February 2017 Family health history (FHH) in the context of risk assessment has been shown to positively impact risk perception and behavior change. The added value of genetic risk testing is less certain. The aim of this study was to determine the impact of Type 2 Diab ... Full text Open Access Link to item Cite

Apolipoprotein L1 Genetic Variants Are Associated with Chronic Kidney Disease but Not with Cardiovascular Disease in a Population Referred for Cardiac Catheterization.

Journal Article Cardiorenal Med · February 2017 BACKGROUND: While the association between APOL1 genetic variants and chronic kidney disease (CKD) has been established, their association with cardiovascular disease (CVD) is unclear. This study sought to understand CKD and cardiovascular risk conferred by ... Full text Link to item Cite

Dysregulation of WTI (-KTS) is Associated with the Kidney-Specific Effects of the LMX1B R246Q Mutation.

Journal Article Sci Rep · January 6, 2017 Mutations in the LIM homeobox transcription factor 1-beta (LMX1B) are a cause of nail patellar syndrome, a condition characterized by skeletal changes, glaucoma and focal segmental glomerulosclerosis. Recently, a missense mutation (R246Q) in LMX1B was repo ... Full text Link to item Cite

A genome-wide trans-ethnic interaction study links the PIGR-FCAMR locus to coronary atherosclerosis via interactions between genetic variants and residential exposure to traffic.

Journal Article PLoS One · 2017 Air pollution is a worldwide contributor to cardiovascular disease mortality and morbidity. Traffic-related air pollution is a widespread environmental exposure and is associated with multiple cardiovascular outcomes such as coronary atherosclerosis, perip ... Full text Link to item Cite

APOL1 risk alleles among individuals with CKD in Northern Tanzania: A pilot study.

Journal Article PLoS One · 2017 INTRODUCTION: In sub-Saharan Africa, approximately 100 million people have CKD, yet genetic risk factors are not well-understood. Despite the potential importance of understanding APOL1 risk allele status among individuals with CKD, little genetic research ... Full text Link to item Cite

Associations among plasma metabolite levels and short-term exposure to PM2.5 and ozone in a cardiac catheterization cohort.

Journal Article Environ Int · December 2016 RATIONALE: Exposure to ambient particulate matter (PM) and ozone has been associated with cardiovascular disease (CVD). However, the mechanisms linking PM and ozone exposure to CVD remain poorly understood. OBJECTIVE: This study explored associations betwe ... Full text Link to item Cite

Short-term effects of air temperature on plasma metabolite concentrations in patients undergoing cardiac catheterization.

Journal Article Environ Res · November 2016 BACKGROUND: Epidemiological studies have shown associations between air temperature and cardiovascular health outcomes. Metabolic dysregulation might also play a role in the development of cardiovascular disease. OBJECTIVES: To investigate short-term tempe ... Full text Link to item Cite

Clinical utility of a Web-enabled risk-assessment and clinical decision support program.

Journal Article Genet Med · October 2016 PURPOSE: Risk-stratified guidelines can improve quality of care and cost-effectiveness, but their uptake in primary care has been limited. MeTree, a Web-based, patient-facing risk-assessment and clinical decision support tool, is designed to facilitate upt ... Full text Open Access Link to item Cite

Interaction Between the FOXO1A-209 Genotype and Tea Drinking Is Significantly Associated with Reduced Mortality at Advanced Ages.

Journal Article Rejuvenation Res · June 2016 On the basis of the genotypic/phenotypic data from Chinese Longitudinal Healthy Longevity Survey (CLHLS) and Cox proportional hazard model, the present study demonstrates that interactions between carrying FOXO1A-209 genotypes and tea drinking are signific ... Full text Open Access Link to item Cite

Association of standard clinical and laboratory variables with red blood cell distribution width.

Journal Article Am Heart J · April 2016 BACKGROUND: Red blood cell distribution width (RDW) strongly predicts clinical outcomes among patients with coronary disease and heart failure. The factors underpinning this association are unknown. METHODS: In 6,447 individuals enrolled in the Measurement ... Full text Link to item Cite

Novel loci and pathways significantly associated with longevity.

Journal Article Sci Rep · February 25, 2016 Only two genome-wide significant loci associated with longevity have been identified so far, probably because of insufficient sample sizes of centenarians, whose genomes may harbor genetic variants associated with health and longevity. Here we report a gen ... Full text Open Access Link to item Cite

Association between satellite-based estimates of long-term PM2.5 exposure and coronary artery disease.

Journal Article Environ Res · February 2016 BACKGROUND: Epidemiological studies have identified associations between long-term PM2.5 exposure and cardiovascular events, though most have relied on concentrations from central-site air quality monitors. METHODS: We utilized a cohort of 5679 patients wh ... Full text Link to item Cite

Genetic Variants in the Bone Morphogenic Protein Gene Family Modify the Association between Residential Exposure to Traffic and Peripheral Arterial Disease.

Journal Article PLoS One · 2016 There is a growing literature indicating that genetic variants modify many of the associations between environmental exposures and clinical outcomes, potentially by increasing susceptibility to these exposures. However, genome-scale investigations of these ... Full text Link to item Cite

Case-Only Survival Analysis Reveals Unique Effects of Genotype, Sex, and Coronary Disease Severity on Survivorship.

Journal Article PLoS One · 2016 Survival bias may unduly impact genetic association with complex diseases; gene-specific survival effects may further complicate such investigations. Coronary artery disease (CAD) is a complex phenotype for which little is understood about gene-specific su ... Full text Link to item Cite

A Guide for a Cardiovascular Genomics Biorepository: the CATHGEN Experience.

Journal Article J Cardiovasc Transl Res · November 2015 The CATHeterization GENetics (CATHGEN) biorepository was assembled in four phases. First, project start-up began in 2000. Second, between 2001 and 2010, we collected clinical data and biological samples from 9334 individuals undergoing cardiac catheterizat ... Full text Link to item Cite

Metabolomic Quantitative Trait Loci (mQTL) Mapping Implicates the Ubiquitin Proteasome System in Cardiovascular Disease Pathogenesis.

Journal Article PLoS Genet · November 2015 Levels of certain circulating short-chain dicarboxylacylcarnitine (SCDA), long-chain dicarboxylacylcarnitine (LCDA) and medium chain acylcarnitine (MCA) metabolites are heritable and predict cardiovascular disease (CVD) events. Little is known about the bi ... Full text Open Access Link to item Cite

Association of Roadway Proximity with Fasting Plasma Glucose and Metabolic Risk Factors for Cardiovascular Disease in a Cross-Sectional Study of Cardiac Catheterization Patients.

Journal Article Environ Health Perspect · October 2015 BACKGROUND: The relationship between traffic-related air pollution (TRAP) and risk factors for cardiovascular disease needs to be better understood in order to address the adverse impact of air pollution on human health. OBJECTIVE: We examined associations ... Full text Link to item Cite

Genome-wide association study of acute kidney injury after coronary bypass graft surgery identifies susceptibility loci.

Journal Article Kidney Int · October 2015 Acute kidney injury (AKI) is a common, serious complication of cardiac surgery. Since prior studies have supported a genetic basis for postoperative AKI, we conducted a genome-wide association study (GWAS) for AKI following coronary bypass graft (CABG) sur ... Full text Open Access Link to item Cite

Computing a Synthetic Chronic Psychosocial Stress Measurement in Multiple Datasets and its Application in the Replication of G × E Interactions of the EBF1 Gene.

Journal Article Genet Epidemiol · September 2015 Chronic psychosocial stress adversely affects health and is associated with the development of disease [Williams, 2008]. Systematic epidemiological and genetic studies are needed to uncover genetic variants that interact with stress to modify metabolic res ... Full text Link to item Cite

Epigenetic profiling identifies novel genes for ascending aortic aneurysm formation with bicuspid aortic valves.

Journal Article Heart Surg Forum · August 30, 2015 BACKGROUND:   Bicuspid aortic valves predispose to ascending aortic aneurysms, but the mechanisms underlying this aortopathy remain incompletely characterized.  We sought to identify epigenetic pathways predisposing to aneurysm formation in bicuspid patien ... Full text Link to item Cite

Gene by stress genome-wide interaction analysis and path analysis identify EBF1 as a cardiovascular and metabolic risk gene.

Journal Article Eur J Hum Genet · June 2015 We performed gene-environment interaction genome-wide association analysis (G × E GWAS) to identify SNPs whose effects on metabolic traits are modified by chronic psychosocial stress in the Multi-Ethnic Study of Atherosclerosis (MESA). In Whites, the G × E ... Full text Link to item Cite

GxE interactions between FOXO genotypes and drinking tea are significantly associated with prevention of cognitive decline in advanced age in China.

Journal Article J Gerontol A Biol Sci Med Sci · April 2015 Logistic regression analysis based on data from 822 Han Chinese oldest old aged 92+ demonstrated that interactions between carrying FOXO1A-266 or FOXO3-310 or FOXO3-292 and tea drinking at around age 60 or at present time were significantly associated with ... Full text Open Access Link to item Cite

Genetic variants associated with vein graft stenosis after coronary artery bypass grafting.

Journal Article Heart Surg Forum · February 27, 2015 BACKGROUND: Vein graft stenosis after coronary artery bypass grafting (CABG) is common. Identifying genes associated with vein graft stenosis after CABG could reveal novel mechanisms of disease and discriminate patients at risk for graft failure. We hypoth ... Full text Link to item Cite

Simultaneous consideration of multiple candidate protein biomarkers for long-term risk for cardiovascular events.

Journal Article Circ Cardiovasc Genet · February 2015 BACKGROUND: Although individual protein biomarkers are associated with cardiovascular risk, rarely have multiple proteins been considered simultaneously to identify which set of proteins best predicts risk. METHODS AND RESULTS: In a nested case-control stu ... Full text Link to item Cite

Genetic simulation tools for post-genome wide association studies of complex diseases.

Journal Article Genet Epidemiol · January 2015 Genetic simulation programs are used to model data under specified assumptions to facilitate the understanding and study of complex genetic systems. Standardized data sets generated using genetic simulation are essential for the development and application ... Full text Link to item Cite

SeqSIMLA2: simulating correlated quantitative traits accounting for shared environmental effects in user-specified pedigree structure.

Journal Article Genet Epidemiol · January 2015 Simulation tools that simulate sequence data in unrelated cases and controls or in families with quantitative traits or disease status are important for genetic studies. The simulation tools can be used to evaluate the statistical power for detecting the c ... Full text Link to item Cite

Feasibility of a bilateral 4000-6000 Hz notch as a phenotype for genetic association analysis.

Journal Article Int J Audiol · 2015 OBJECTIVE: Noise-induced hearing loss (NIHL) is a worldwide health problem and a growing concern among young people. Although some people appear to be more susceptible to NIHL, genetic association studies lack a specific phenotype. We tested the feasibilit ... Full text Link to item Cite

G protein-coupled receptor kinase 5 gene polymorphisms are associated with postoperative atrial fibrillation after coronary artery bypass grafting in patients receiving β-blockers.

Other Circ Cardiovasc Genet · October 2014 BACKGROUND: We hypothesized that genetic variations in the adrenergic signaling pathway and cytochrome P450 2D6 enzyme are associated with new-onset atrial fibrillation (AF) in patients who underwent coronary artery bypass grafting and were treated with pe ... Full text Link to item Cite

DRD2 SNP RS4586205, CHD METABOLIC RISK FACTORS IN NORMALS AND CLINICAL COURSE IN CHD PATIENTS

Conference INTERNATIONAL JOURNAL OF BEHAVIORAL MEDICINE · August 1, 2014 Link to item Cite

Providing patient education: impact on quantity and quality of family health history collection.

Journal Article Fam Cancer · June 2014 BACKGROUND: Family health history (FHH) is an underutilized tool in primary care to identify and risk-stratify individuals with increased cancer risk. OBJECTIVE: Evaluate the influence of patient education on quantity and quality of FHH entered into a prim ... Full text Link to item Cite

Implementing family health history risk stratification in primary care: impact of guideline criteria on populations and resource demand.

Journal Article Am J Med Genet C Semin Med Genet · March 2014 UNLABELLED: The Genomic Medicine Model aims to facilitate patient engagement, patient/provider education of genomics/personalized medicine, and uptake of risk-stratified evidence-based prevention guidelines using MeTree, a patient-facing family health hist ... Full text Link to item Cite

Quality of family history collection with use of a patient facing family history assessment tool.

Journal Article BMC Fam Pract · February 13, 2014 BACKGROUND: Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a ... Full text Link to item Cite

Validation of the association between a branched chain amino acid metabolite profile and extremes of coronary artery disease in patients referred for cardiac catheterization.

Journal Article Atherosclerosis · January 2014 OBJECTIVE: To validate independent associations between branched-chain amino acids (BCAA) and other metabolites with coronary artery disease (CAD). METHODS: We conducted mass-spectrometry-based profiling of 63 metabolites in fasting plasma from 1983 sequen ... Full text Link to item Cite

Quality of family history collection with use of a patient facing family history assessment tool

Journal Article BMC Family Practice · 2014 Background: Studies have shown that the quality of family health history (FHH) collection in primary care is inadequate to assess disease risk. To use FHH for risk assessment, collected data must have adequate detail. To address this issue, we developed a ... Full text Cite

Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

Journal Article Hum Mol Genet · December 20, 2013 Smooth muscle cell (SMC) proliferation is a hallmark of vascular injury and disease. Global hypomethylation occurs during SMC proliferation in culture and in vivo during neointimal formation. Regardless of the programmed or stochastic nature of hypomethyla ... Full text Link to item Cite

Gene-smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort.

Journal Article Hum Genet · December 2013 We performed a gene-smoking interaction analysis using families from an early-onset coronary artery disease cohort (GENECARD). This analysis was focused on validating and expanding results from previous studies implicating single nucleotide polymorphisms ( ... Full text Link to item Cite

MicroRNA expression differentiates squamous epithelium from Barrett's esophagus and esophageal cancer.

Journal Article Dig Dis Sci · November 2013 BACKGROUND: Current strategies fail to identify most patients with esophageal adenocarcinoma (EAC) before the disease becomes advanced and incurable. Given the dismal prognosis associated with EAC, improvements in detection of early-stage esophageal neopla ... Full text Link to item Cite

Interactions between social/ behavioral factors and ADRB2 genotypes may be associated with health at advanced ages in China.

Journal Article BMC Geriatr · September 9, 2013 BACKGROUND: Existing literature indicates that ADRB2 gene is associated with health and longevity, but none of previous studies investigated associations of carrying the ADRB2 minor alleles and interactions between ADRB2 genotypes and social/behavioral fac ... Full text Open Access Link to item Cite

Patient and primary care provider experience using a family health history collection, risk stratification, and clinical decision support tool: a type 2 hybrid controlled implementation-effectiveness trial.

Journal Article BMC Fam Pract · August 6, 2013 BACKGROUND: Family health history (FHH) is the single strongest predictor of disease risk and yet is significantly underutilized in primary care. We developed a patient facing FHH collection tool, MeTree, that uses risk stratification to generate clinical ... Full text Link to item Cite

Phenotyping clinical disorders: lessons learned from pelvic organ prolapse.

Journal Article Am J Obstet Gynecol · May 2013 Genetic epidemiology, the study of genetic contributions to risk for disease, is an innovative area in medicine. Although research in this arena has advanced in other disciplines, few genetic epidemiological studies have been conducted in obstetrics and gy ... Full text Link to item Cite

The genomic medicine model: an integrated approach to implementation of family health history in primary care.

Journal Article Per Med · May 2013 As an essential tool for risk stratification, family health history (FHH) is a central component of personalized medicine; yet, despite its widespread acceptance among professional societies and its established place in the medical interview, its widesprea ... Full text Link to item Cite

Chronic family stress moderates the association between a TOMM40 variant and triglyceride levels in two independent Caucasian samples.

Journal Article Biol Psychol · April 2013 TOMM40 SNP rs157580 has been associated with triglyceride levels in genome-wide association studies (GWAS). Chronic caregiving stress moderates the association between triglyceride levels and a nearby SNP rs439401 that is associated with triglyceride level ... Full text Link to item Cite

Association between the chromosome 9p21 locus and angiographic coronary artery disease burden: a collaborative meta-analysis.

Journal Article J Am Coll Cardiol · March 5, 2013 OBJECTIVES: This study sought to ascertain the relationship of 9p21 locus with: 1) angiographic coronary artery disease (CAD) burden; and 2) myocardial infarction (MI) in individuals with underlying CAD. BACKGROUND: Chromosome 9p21 variants have been robus ... Full text Link to item Cite

NMR-BASED LIPOPROTEIN PARTICLE PROFILING IDENTIFIES NOVEL SIGNATURES FOR CARDIOVASCULAR DISEASE

Conference Journal of the American College of Cardiology · March 2013 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

An assessment of survey measures used across key epidemiologic studies of United States Gulf War I Era veterans.

Journal Article Environ Health · January 9, 2013 Over the past two decades, 12 large epidemiologic studies and 2 registries have focused on U.S. veterans of the 1990-1991 Gulf War Era. We conducted a review of these studies' research tools to identify existing gaps and overlaps of efforts to date, and to ... Full text Link to item Cite

Collection of family health history for assessment of chronic disease risk in primary care.

Journal Article N C Med J · 2013 BACKGROUND: Family health history can predict a patient's risk for common complex diseases. This project assessed the completeness of family health history data in medical charts and evaluated the utility of these data for performing risk assessments in pr ... Link to item Cite

A functional polymorphism in the 5HTR2C gene associated with stress responses also predicts incident cardiovascular events.

Journal Article PLoS One · 2013 Previously we have shown that a functional nonsynonymous single nucleotide polymorphism (rs6318) of the 5HTR2C gene located on the X-chromosome is associated with hypothalamic-pituitary-adrenal axis response to a stress recall task, and with endophenotypes ... Full text Open Access Link to item Cite

Genome-wide linkage analysis of cardiovascular disease biomarkers in a large, multigenerational family.

Journal Article PLoS One · 2013 Given the importance of cardiovascular disease (CVD) to public health and the demonstrated heritability of both disease status and its related risk factors, identifying the genetic variation underlying these susceptibilities is a critical step in understan ... Full text Open Access Link to item Cite

The genetic basis for survivorship in coronary artery disease.

Journal Article Front Genet · 2013 Survivorship is a trait characterized by endurance and virility in the face of hardship. It is largely considered a psychosocial attribute developed during fatal conditions, rather than a biological trait for robustness in the context of complex, age-depen ... Full text Link to item Cite

Baseline metabolomic profiles predict cardiovascular events in patients at risk for coronary artery disease.

Journal Article Am Heart J · May 2012 BACKGROUND: Cardiovascular risk models remain incomplete. Small-molecule metabolites may reflect underlying disease and, as such, serve as novel biomarkers of cardiovascular risk. METHODS: We studied 2,023 consecutive patients undergoing cardiac catheteriz ... Full text Link to item Cite

Metabolic profiles predict adverse events after coronary artery bypass grafting.

Journal Article J Thorac Cardiovasc Surg · April 2012 OBJECTIVE: Clinical models incompletely predict the outcomes after coronary artery bypass grafting. Novel molecular technologies can identify biomarkers to improve risk stratification. We examined whether metabolic profiles can predict adverse events in pa ... Full text Link to item Cite

Fine mapping of a linkage peak with integration of lipid traits identifies novel coronary artery disease genes on chromosome 5.

Journal Article BMC Genet · February 27, 2012 BACKGROUND: Coronary artery disease (CAD), and one of its intermediate risk factors, dyslipidemia, possess a demonstrable genetic component, although the genetic architecture is incompletely defined. We previously reported a linkage peak on chromosome 5q31 ... Full text Link to item Cite

Integrating genetic and gene expression evidence into genome-wide association analysis of gene sets.

Journal Article Genome Res · February 2012 Featured Publication Single variant or single gene analyses generally account for only a small proportion of the phenotypic variation in complex traits. Alternatively, gene set or pathway association analyses are playing an increasingly important role in uncovering genetic arc ... Full text Link to item Cite

Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system.

Journal Article BMC Health Serv Res · October 11, 2011 Featured Publication BACKGROUND: The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is ... Full text Open Access Link to item Cite

Cigarette smoking status has a modifying effect on the association between polymorphisms in KALRN and measures of cardiovascular risk in the diabetes heart study

Journal Article Genes and Genomics · October 1, 2011 All manifestations of cardiovascular disease (CVD) are substantially more common in patients with type 2 diabetes mellitus (T2DM) than in non-diabeticindividuals. The current study evaluated KALRN, a gene previously linked to CVD, as a contributor to CVD i ... Full text Cite

Polymorphic variants in tenascin-C (TNC) are associated with atherosclerosis and coronary artery disease.

Journal Article Hum Genet · June 2011 Featured Publication Tenascin-C (TNC) is an extracellular matrix protein implicated in biological processes important for atherosclerotic plaque development and progression, including smooth muscle cell migration and proliferation. Previously, we observed differential expressi ... Full text Link to item Cite

A common variant in the CDKN2B gene on chromosome 9p21 protects against coronary artery disease in Americans of African ancestry.

Journal Article J Hum Genet · March 2011 Featured Publication A 58 kb region on chromosome 9p21.3 has consistently shown strong association with coronary artery disease (CAD) in multiple genome-wide association studies in populations of European and East Asian ancestry. In this study, we sought to further characteriz ... Full text Link to item Cite

Effects of FOXO genotypes on longevity: a biodemographic analysis.

Journal Article J Gerontol A Biol Sci Med Sci · December 2010 Featured Publication Based on data from 760 centenarians and 1060 middle-age controls (all Han Chinese), this article contributes biodemographic insights and syntheses concerning the magnitude of effects of the FOXO genotypes on longevity. We also estimate independent and join ... Full text Open Access Link to item Cite

Reclassification of cardiovascular risk using integrated clinical and molecular biosignatures: Design of and rationale for the Measurement to Understand the Reclassification of Disease of Cabarrus and Kannapolis (MURDOCK) Horizon 1 Cardiovascular Disease Study.

Journal Article Am Heart J · September 2010 Featured Publication BACKGROUND: Clinical predictive models leave gaps in our ability to stratify cardiovascular risk. High-throughput molecular profiling promises to improve risk classification. METHODS: Horizon 1 of the Measurement to Understand the Reclassification of Disea ... Full text Link to item Cite

A new locus for familial FSGS on chromosome 2p.

Journal Article J Am Soc Nephrol · August 2010 FSGS is a clinicopathologic entity characterized by nephrotic syndrome and progression to ESRD. Although the pathogenesis is unknown, the podocyte seems to play a central role in this disorder. Here, we present six kindreds with hereditary FSGS that did no ... Full text Link to item Cite

Aging-related atherosclerosis is exacerbated by arterial expression of tumor necrosis factor receptor-1: evidence from mouse models and human association studies.

Journal Article Hum Mol Genet · July 15, 2010 Featured Publication Aging is believed to be among the most important contributors to atherosclerosis, through mechanisms that remain largely obscure. Serum levels of tumor necrosis factor (TNF) rise with aging and have been correlated with the incidence of myocardial infarcti ... Full text Link to item Cite

Ordered subset analysis for case-control studies.

Journal Article Genet Epidemiol · July 2010 Featured Publication Genetic heterogeneity, which may manifest on a population level as different frequencies of a specific disease susceptibility allele in different subsets of patients, is a common problem for candidate gene and genome-wide association studies of complex hum ... Full text Link to item Cite

Association of a peripheral blood metabolic profile with coronary artery disease and risk of subsequent cardiovascular events.

Journal Article Circ Cardiovasc Genet · April 2010 Featured Publication BACKGROUND: Molecular tools may provide insight into cardiovascular risk. We assessed whether metabolites discriminate coronary artery disease (CAD) and predict risk of cardiovascular events. METHODS AND RESULTS: We performed mass-spectrometry-based profil ... Full text Open Access Link to item Cite

Genome-wide linkage analysis of quantitative biomarker traits of osteoarthritis in a large, multigenerational extended family.

Journal Article Arthritis Rheum · March 2010 Featured Publication OBJECTIVE: The genetic contributions to the multifactorial disorder osteoarthritis (OA) have been increasingly recognized. The goal of the current study was to use OA-related biomarkers of severity and disease burden as quantitative traits to identify gene ... Full text Link to item Cite

Assessment of LD matrix measures for the analysis of biological pathway association.

Journal Article Stat Appl Genet Mol Biol · 2010 Featured Publication Complex diseases will have multiple functional sites, and it will be invaluable to understand the cross-locus interaction in terms of linkage disequilibrium (LD) between those sites (epistasis) in addition to the haplotype-LD effects. We investigated the s ... Full text Open Access Link to item Cite

Validation study of genetic associations with coronary artery disease on chromosome 3q13-21 and potential effect modification by smoking.

Journal Article Ann Hum Genet · November 2009 Featured Publication The CATHGEN study reported associations of chromosome 3q13-21 genes (KALRN, MYLK, CDGAP, and GATA2) with early-onset coronary artery disease (CAD). This study attempted to independently validate those associations. Eleven single nucleotide polymorphisms (S ... Full text Link to item Cite

A general integrative genomic feature transcription factor binding site prediction method applied to analysis of USF1 binding in cardiovascular disease.

Journal Article Hum Genomics · April 2009 Featured Publication Transcription factors are key mediators of human complex disease processes. Identifying the target genes of transcription factors will increase our understanding of the biological network leading to disease risk. The prediction of transcription factor bind ... Full text Link to item Cite

Genetic effects in the leukotriene biosynthesis pathway and association with atherosclerosis.

Journal Article Hum Genet · March 2009 Featured Publication Leukotrienes are arachidonic acid derivatives long known for their inflammatory properties and their involvement with a number of human diseases, most particularly asthma. Recently, leukotriene-based inflammation has also been shown to play an important ro ... Full text Link to item Cite

High heritability of metabolomic profiles in families burdened with premature cardiovascular disease.

Journal Article Mol Syst Biol · 2009 Featured Publication Integration of genetic and metabolic profiling holds promise for providing insight into human disease. Coronary artery disease (CAD) is strongly heritable, but the heritability of metabolomic profiles has not been evaluated in humans. We performed quantita ... Full text Link to item Cite

Neuropeptide Y gene polymorphisms confer risk of early-onset atherosclerosis.

Journal Article PLoS Genet · January 2009 Featured Publication Neuropeptide Y (NPY) is a strong candidate gene for coronary artery disease (CAD). We have previously identified genetic linkage to familial CAD in the genomic region of NPY. We performed follow-up genetic, biostatistical, and functional analysis of NPY in ... Full text Open Access Link to item Cite

Haplotype-based analysis: a summary of GAW16 Group 4 analysis.

Journal Article Genet Epidemiol · 2009 In this summary article, we describe the contributions included in the haplotype-based analysis group (Group 4) at the Genetic Analysis Workshop 16, which was held in September 17-20, 2008. Our group applied a large number of haplotype-based methods in the ... Full text Link to item Cite

Ordered-subset analysis (OSA) for family-based association mapping of complex traits.

Journal Article Genet Epidemiol · November 2008 Featured Publication Association analysis provides a powerful tool for complex disease gene mapping. However, in the presence of genetic heterogeneity, the power for association analysis can be low since only a fraction of the collected families may carry a specific disease su ... Full text Link to item Cite

ALOX5AP variants are associated with in-stent restenosis after percutaneous coronary intervention.

Journal Article Atherosclerosis · November 2008 Featured Publication BACKGROUND: Use of drug-eluting stents (DES) has reduced in-stent restenosis after percutaneous coronary intervention (PCI); however, DES are associated with late stent thrombosis. There is no accurate way to predict in-stent restenosis, although risk fact ... Full text Link to item Cite

Polymorphisms of the tumor suppressor gene LSAMP are associated with left main coronary artery disease.

Journal Article Ann Hum Genet · July 2008 Featured Publication Previous association mapping on chromosome 3q13-21 detected evidence for association at the limbic system-associated membrane protein (LSAMP) gene in individuals with late-onset coronary artery disease (CAD). LSAMP has never been implicated in the pathogen ... Full text Link to item Cite

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case-control and family datasets.

Journal Article Hum Mol Genet · May 1, 2008 Featured Publication Platelet-activating factor acetylhydrolase (PLA2G7) is a potent pro- and anti-inflammatory molecule that has been implicated in multiple inflammatory disease processes, including cardiovascular disease. The goal of this study was to investigate the genetic ... Full text Link to item Cite

Genetic and functional association of FAM5C with myocardial infarction.

Journal Article BMC Med Genet · April 22, 2008 Featured Publication BACKGROUND: We previously identified a 40 Mb region of linkage on chromosome 1q in our early onset coronary artery disease (CAD) genome-wide linkage scan (GENECARD) with modest evidence for linkage (n = 420, LOD 0.95). When the data are stratified by acute ... Full text Link to item Cite

Increased efficiency of case-control association analysis by using allele-sharing and covariate information.

Journal Article Hum Hered · 2008 Featured Publication OBJECTIVE: We compared the efficiency of case selection strategies for following up a genome-wide linkage screen of multiplex families. We simulated datasets under three models by which continuous environmental or clinical covariates may contribute to dise ... Full text Link to item Cite

Interpreting analyses of continuous covariates in affected sibling pair linkage studies.

Journal Article Genet Epidemiol · September 2007 Featured Publication Datasets collected for linkage analyses of complex human diseases often include a number of clinical or environmental covariates. In this study, we evaluated the performance of three linkage analysis methods when the relationship between continuous covaria ... Full text Link to item Cite

Peakwide mapping on chromosome 3q13 identifies the kalirin gene as a novel candidate gene for coronary artery disease.

Journal Article Am J Hum Genet · April 2007 Featured Publication A susceptibility locus for coronary artery disease (CAD) has been mapped to chromosome 3q13-21 in a linkage study of early-onset CAD. We completed an association-mapping study across the 1-LOD-unit-down supporting interval, using two independent white case ... Full text Link to item Cite

Interpretation of simultaneous linkage and family-based association tests in genome screens.

Journal Article Genet Epidemiol · February 2007 Featured Publication Linkage and association analyses have played important roles in identifying susceptibility genes for complex diseases. Linkage tests and family-based tests of association are often applied in the same data to help fine-map disease loci or validate results. ... Full text Link to item Cite

Multistage designs in the genomic era: providing balance in complex disease studies.

Journal Article Genet Epidemiol · 2007 In this summary paper, we describe the contributions included in the Multistage Design group (Group 14) at the Genetic Analysis Workshop 15, which was held during November 12-14, 2006. Our group contrasted and compared different approaches to reducing comp ... Full text Link to item Cite

Maternal serum cytokines in preterm premature rupture of membranes.

Journal Article Obstet Gynecol · January 2007 Featured Publication OBJECTIVE: To estimate whether maternal serum interleukin (IL)-6 or granulocyte colony-stimulating factor (G-CSF) obtained daily are elevated in women with preterm premature rupture of membranes who develop funisitis. METHODS: Daily blood samples were obta ... Full text Link to item Cite

Two-stage study designs for analyzing disease-associated covariates: linkage thresholds and case-selection strategies.

Journal Article BMC Proc · 2007 The incorporation of disease-associated covariates into studies aiming to identify susceptibility genes for complex human traits is a challenging problem. Accounting for such covariates in genetic linkage and association analyses may help reduce the geneti ... Full text Link to item Cite

Comparison of GIST and LAMP on the GAW15 simulated data.

Journal Article BMC Proc · 2007 After genetic linkage has been identified for a complex disease, the next step is often fine-mapping by association analysis, using single-nucleotide polymorphisms (SNPs) within a linkage region. If a SNP shows evidence of association, it is useful to know ... Full text Link to item Cite

Visualizing genotype x phenotype relationships in the GAW15 simulated data.

Journal Article BMC Proc · 2007 We have developed a graphical display tool called SIMLAPLOT for visualizing different ways in which continuous covariates may influence the genotype-specific risk for complex human diseases. The purpose of our study was to examine continuous covariates in ... Full text Link to item Cite

Serum lipids in the GENECARD study of coronary artery disease identify quantitative trait loci and phenotypic subsets on chromosomes 3q and 5q.

Journal Article Ann Hum Genet · November 2006 Featured Publication Coronary artery disease (CAD) and dyslipidemia have strong genetic components. Heterogeneity complicates evaluating genetics of complex diseases such as CAD; incorporating disease-related phenotypes may help reduce heterogeneity. We hypothesized that incor ... Full text Link to item Cite

Association of maternal IL-1 receptor antagonist intron 2 gene polymorphism and preterm birth.

Journal Article Am J Obstet Gynecol · November 2006 Featured Publication OBJECTIVE: This study was undertaken to determine whether the interleukin-1 receptor antagonist (IL-1RN) variable number tandem repeat polymorphism is associated with preterm birth. STUDY DESIGN: A case-control study was performed. Cases (n = 95) delivered ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal Article PLoS Genet · August 25, 2006 Featured Publication The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Link to item Cite

GATA2 is associated with familial early-onset coronary artery disease.

Journal Article PLoS genetics · August 25, 2006 The transcription factor GATA2 plays an essential role in the establishment and maintenance of adult hematopoiesis. It is expressed in hematopoietic stem cells, as well as the cells that make up the aortic vasculature, namely aortic endothelial cells and s ... Full text Cite

Linkage analysis with gene-environment interaction: model illustration and performance of ordered subset analysis.

Journal Article Genet Epidemiol · July 2006 Featured Publication The ordered subset analysis (OSA) method allows for the incorporation of covariates into the linkage analysis of a dichotomous disease phenotype in order to reduce genetic heterogeneity. Complex human diseases may involve gene-environment (G x E) interacti ... Full text Link to item Cite

The APL test: extension to general nuclear families and haplotypes and examination of its robustness.

Journal Article Hum Hered · 2006 Featured Publication OBJECTIVE: The Association in the Presence of Linkage test (APL) is a powerful statistical method that allows for missing parental genotypes in nuclear families. However, in its original form, the statistic does not easily extend to mixed nuclear family st ... Full text Link to item Cite

Searching for epistatic interactions in nuclear families using conditional linkage analysis.

Journal Article BMC Genet · December 30, 2005 Featured Publication BACKGROUND: Genomic screens generally employ a single-locus strategy for linkage analysis, but this may have low power in the presence of epistasis. Ordered subsets analysis (OSA) is a method for conditional linkage analysis using continuous covariates. ME ... Full text Link to item Cite

Potential for expanded power in linkage studies using the ALLEGRO and MERLIN software programs.

Journal Article J Med Genet · December 2005 Featured Publication Multipoint linkage analysis in complex diseases requires the use of fast algorithms that can handle many markers and a large number of moderately sized pedigrees with unknown mode of inheritance. This need has led to the development of several competitive ... Full text Link to item Cite

SNPselector: a web tool for selecting SNPs for genetic association studies.

Journal Article Bioinformatics · November 15, 2005 Featured Publication SUMMARY: Single nucleotide polymorphisms (SNPs) are commonly used for association studies to find genes responsible for complex genetic diseases. With the recent advance of SNP technology, researchers are able to assay thousands of SNPs in a single experim ... Full text Link to item Cite

Nonparametric Linkage Analysis

Journal Article · October 7, 2005 Full text Cite

Early adult-onset POAG linked to 15q11-13 using ordered subset analysis.

Journal Article Invest Ophthalmol Vis Sci · June 2005 Featured Publication PURPOSE: Primary open-angle glaucoma (POAG) is a complex inherited disorder. It has been demonstrated in other complex disorders that phenotypic heterogeneity may be the result of genetic heterogeneity and that stratification analysis can be used to increa ... Full text Link to item Cite

Statistical Viewer: a tool to upload and integrate linkage and association data as plots displayed within the Ensembl genome browser.

Journal Article BMC Bioinformatics · April 12, 2005 Featured Publication BACKGROUND: To facilitate efficient selection and the prioritization of candidate complex disease susceptibility genes for association analysis, increasingly comprehensive annotation tools are essential to integrate, visualize and analyze vast quantities o ... Full text Link to item Cite

Association of genetic polymorphisms with risk of renal injury after coronary bypass graft surgery.

Journal Article Am J Kidney Dis · March 2005 BACKGROUND: Post-cardiac surgery renal dysfunction is a common, serious, multifactorial disorder, with interpatient variability predicted poorly by preoperative clinical, procedural, and biological markers. Therefore, we tested the hypothesis that selected ... Full text Link to item Cite

Extension of the SIMLA package for generating pedigrees with complex inheritance patterns: environmental covariates, gene-gene and gene-environment interaction.

Journal Article Stat Appl Genet Mol Biol · 2005 Featured Publication We have previously distributed a software package, SIMLA (SIMulation of Linkage and Association), which can be used to generate disease phenotype and marker genotype data in three-generational pedigrees of user-specified structure. To our knowledge, SIMLA ... 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 Featured Publication 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

Extension of the SIMLA package for generating pedigrees with complex inheritance patterns: Environmental covariates, gene-gene and gene-environment interaction

Journal Article Statistical Applications in Genetics and Molecular Biology · 2005 We have previously distributed a software package, SIMLA (SIMulation of Linkage and Association), which can be used to generate disease phenotype and marker genotype data in three-generational pedigrees of user-specified structure. To our knowledge, SIMLA ... Cite

A genomewide scan for early-onset coronary artery disease in 438 families: the GENECARD Study.

Journal Article Am J Hum Genet · September 2004 Featured Publication A family history of coronary artery disease (CAD), especially when the disease occurs at a young age, is a potent risk factor for CAD. DNA collection in families in which two or more siblings are affected at an early age allows identification of genetic fa ... Full text Link to item Cite

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.

Journal Article BMC Genet · July 6, 2004 Featured Publication BACKGROUND: Age-related macular degeneration (AMD) is a complex disorder that is responsible for the majority of central vision loss in older adults living in developed countries. Phenotypic and genetic heterogeneity complicate the analysis of genome-wide ... Full text Link to item Cite

Ordered subset linkage analysis supports a susceptibility locus for age-related macular degeneration on chromosome 16p12.

Journal Article BMC genetics · July 6, 2004 Age-related macular degeneration (AMD) is a complex disorder that is responsible for the majority of central vision loss in older adults living in developed countries. Phenotypic and genetic heterogeneity complicate the analysis of genome-wide scans for AM ... Cite

Ordered subset analysis in genetic linkage mapping of complex traits.

Journal Article Genet Epidemiol · July 2004 Featured Publication Etiologic heterogeneity is a fundamental feature of complex disease etiology; genetic linkage analysis methods to map genes for complex traits that acknowledge the presence of genetic heterogeneity are likely to have greater power to identify subtle change ... Full text Link to item Cite

A large set of Finnish affected sibling pair families with type 2 diabetes suggests susceptibility loci on chromosomes 6, 11, and 14.

Journal Article Diabetes · March 2004 Featured Publication The aim of the Finland-United States Investigation of NIDDM Genetics (FUSION) study is to identify genes that predispose to type 2 diabetes or are responsible for variability in diabetes-related traits via a positional cloning and positional candidate gene ... Full text Link to item Cite

Pedigree generation for analysis of genetic linkage and association.

Journal Article Pac Symp Biocomput · 2004 Featured Publication We have developed a software package, SIMLA (simulation of linkage and association), which can be used to generate pedigree data under user-specified conditions. The number and location of disease loci, disease penetrances, marker locations, and marker dis ... Full text Link to item Cite

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

Journal Article BMC Genet · December 31, 2003 Featured Publication 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

Genotype-based association test for general pedigrees: the genotype-PDT.

Journal Article Genet Epidemiol · November 2003 Featured Publication Many family-based tests of linkage disequilibrium (LD) are based on counts of alleles rather than genotypes. However, allele-based tests may not detect interactions among alleles at a single locus that are apparent when examining associations with genotype ... Full text Link to item Cite

Accounting for linkage in family-based tests of association with missing parental genotypes.

Journal Article Am J Hum Genet · November 2003 Featured Publication In studies of complex diseases, a common paradigm is to conduct association analysis at markers in regions identified by linkage analysis, to attempt to narrow the region of interest. Family-based tests for association based on parental transmissions to af ... Full text Link to item Cite

Ordered-subsets linkage analysis detects novel Alzheimer disease loci on chromosomes 2q34 and 15q22.

Journal Article Am J Hum Genet · November 2003 Featured Publication Alzheimer disease (AD) is a complex disorder characterized by a wide range, within and between families, of ages at onset of symptoms. Consideration of age at onset as a covariate in genetic-linkage studies may reduce genetic heterogeneity and increase sta ... Full text Link to item Cite

Combinatorial mismatch scan for Successful Aging Loci in the Amish.

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

Thymus transplantation in complete DiGeorge syndrome: immunologic and safety evaluations in 12 patients.

Journal Article Blood · August 1, 2003 Featured Publication Complete DiGeorge syndrome is a fatal condition in which infants have no detectable thymus function. The optimal treatment for the immune deficiency of complete DiGeorge syndrome has not been determined. Safety and efficacy of thymus transplantation were e ... Full text Link to item Cite

Design of the Genetics of Early Onset Cardiovascular Disease (GENECARD) study.

Journal Article Am Heart J · April 2003 Featured Publication BACKGROUND: Coronary artery disease (CAD) is the leading cause of death and a leading cause of disability in the developed world. Early onset (premature) coronary artery disease (EOCAD) is known to have a particularly strong genetic component. However, the ... Full text Link to item Cite

Genomic convergence: identifying candidate genes for Parkinson's disease by combining serial analysis of gene expression and genetic linkage.

Journal Article Hum Mol Genet · March 15, 2003 We present a multifactorial, multistep approach called genomic convergence that combines gene expression with genomic linkage analysis to identify and prioritize candidate susceptibility genes for Parkinson's disease (PD). To initiate this process, we used ... Link to item Cite

Fine mapping of autistic disorder to chromosome 15q11-q13 by use of phenotypic subtypes.

Journal Article Am J Hum Genet · March 2003 Featured Publication Autistic disorder (AutD) is a complex genetic disease. Available evidence suggests that several genes contribute to the underlying genetic risk for the development of AutD. However, both etiologic heterogeneity and genetic heterogeneity confound the discov ... Full text Link to item Cite

Effects of covariates: a summary of Group 5 contributions.

Journal Article Genet Epidemiol · 2003 Featured Publication This report summarizes the contributions of Genetic Analysis Workshop 13 (GAW13) related to the use of covariates in genetic analysis. Seven papers are summarized, five of which analyzed the Framingham Heart Study Data, and two the simulated data. Five pap ... Full text Link to item Cite

Linkage of autistic disorder to chromosome 15q11-q13 using phenotypic subtypes

Conference AMERICAN JOURNAL OF MEDICAL GENETICS · October 8, 2002 Link to item Cite

Linkage of autistic disorder to chromosome 15q11-q13 using phenotypic subtypes.

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

A genome-wide scan in 433 families with early-onset coronary artery disease.

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

A genotype-based association test for general pedigrees: The geno-PDT.

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

Software for simulation studies of complex traits: SIMLA.

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

Mapping of sex determination loci on the white campion (Silene latifolia) Y chromosome using amplified fragment length polymorphism.

Journal Article Genetics · February 2002 S. latifolia is a dioecious plant with morphologically distinct sex chromosomes. To genetically map the sex determination loci on the male-specific Y chromosome, we identified X-ray-induced sex determination mutants that had lost male traits. We used male- ... Full text Link to item Cite

Clinical applications: An interactive clinical data management system for genetic studies.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2001 Link to item Cite

Correlation between linkage and association tests in families.

Journal Article AMERICAN JOURNAL OF HUMAN GENETICS · October 1, 2001 Link to item Cite

Pedigree selection and information content.

Journal Article Curr Protoc Hum Genet · August 2001 This unit covers the important criteria and methods for appropriately selecting pedigrees for linkage analysis. It includes methods for determining the power of a dataset to detect genetic loci for both model-based (lod score) and model-free (affected sib- ... Full text Link to item Cite

Life after the screen: making sense of many P-values.

Journal Article Genet Epidemiol · 2001 Featured Publication A multiple analytic approach may be useful for analyzing complex traits since different methods extract both similar and distinct, but complementary pieces of information from genome screen data on extended pedigrees. We examined the usefulness of combinin ... Full text Link to item Cite

The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. II. An autosomal genome scan for diabetes-related quantitative-trait loci.

Journal Article Am J Hum Genet · November 2000 Featured Publication Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes-related quantitative traits in 580 Finnish families ascertained for an affected sibling pair and ana ... Link to item Cite

The Finland-United States investigation of non-insulin-dependent diabetes mellitus genetics (FUSION) study. I. An autosomal genome scan for genes that predispose to type 2 diabetes.

Journal Article Am J Hum Genet · November 2000 Featured Publication We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score (MLS) of 2.15 at map position 69.5 cM from pter and second ... Link to item Cite

Genetic analysis for common complex disease.

Journal Article Am Heart J · October 2000 Featured Publication Full text Link to item Cite

Genetic studies in autistic disorder and chromosome 15.

Journal Article Neurogenetics · March 2000 Featured Publication Autistic disorder (AD) is a developmental disorder affecting social interactions, communication, and behavior. AD is a disease of complex genetic architecture. It is postulated that several genes contribute to the underlying etiology of AD. Chromosome 15 i ... Full text Link to item Cite

[Carotid stenting with the new slotted tube stent--prospective multicenter study. Essen experiences]].

Journal Article Z Kardiol · 2000 Featured Publication UNLABELLED: The indication for therapy of high degree carotid stenoses is discussed controversely in regard to new publications. Only symptomatic carotid stenoses are accepted as indication for operative therapy (arterectomy). The new method of carotid ste ... Link to item Cite

Genomic screen for Autistic Disorder.

Journal Article MOLECULAR PSYCHIATRY · September 1, 1999 Link to item Cite

Familiality of quantitative metabolic traits in Finnish families with non-insulin-dependent diabetes mellitus. Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators.

Journal Article Hum Hered · June 1999 Featured Publication Type 2 diabetes mellitus (NIDDM) is a complex disorder encompassing multiple metabolic defects. There exists strong evidence for a genetic component to NIDDM; however, to date there have been few reports of linkage between genetic markers along the genome ... Full text Link to item Cite

Type 2 diabetes: evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs.

Journal Article Proc Natl Acad Sci U S A · March 2, 1999 Featured Publication We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best evidence for linkage is on chromosome 20 with potentially separ ... Full text Link to item Cite

The W64R variant of the beta3-adrenergic receptor is not associated with type II diabetes or obesity in a large Finnish sample.

Journal Article Diabetologia · February 1999 Featured Publication Recent studies have suggested an association between Type II (non-insulin-dependent) diabetes mellitus-related phenotypes and a cytosine-to-thymidine substitution that results in the replacement of tryptophan by arginine at codon 64 (Trp64Arg or W64R) of t ... Full text Link to item Cite

Complete genomic screen for disease susceptibility loci in nuclear families.

Journal Article Genet Epidemiol · 1999 Featured Publication 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

Genetic linkage analysis of complex genetic traits by using affected sibling pairs.

Journal Article Biometrics · December 1998 Featured Publication We provide an introduction to genetic linkage analysis. We discuss methods for the genetic analysis of common, complex disease such as diabetes, heart disease or hypertension. We describe the analysis of affected sibling pairs and discuss some of the chall ... Link to item Cite

A large sample of finnish diabetic sib-pairs reveals no evidence for a non-insulin-dependent diabetes mellitus susceptibility locus at 2qter.

Journal Article J Clin Invest · August 15, 1998 Featured Publication In the first reported positive result from a genome scan for non-insulin-dependent diabetes mellitus (NIDDM), Hanis et al. found significant evidence of linkage for NIDDM on chromosome 2q37 and named the putative disease locus NIDDM1 (Hanis et al. 1996. Na ... Full text Link to item Cite

Mapping genes for NIDDM. Design of the Finland-United States Investigation of NIDDM Genetics (FUSION) Study.

Journal Article Diabetes Care · June 1998 Featured Publication OBJECTIVE: To map and identify susceptibility genes for NIDDM and for the intermediate quantitative traits associated with NIDDM. RESEARCH DESIGN AND METHODS: We describe the methodology and sample of the Finland-United States Investigation of NIDDM Geneti ... Full text Link to item Cite

Methods for precise sizing, automated binning of alleles, and reduction of error rates in large-scale genotyping using fluorescently labeled dinucleotide markers. FUSION (Finland-U.S. Investigation of NIDDM Genetics) Study Group.

Journal Article Genome Res · February 1997 Featured Publication Large-scale genotyping is required to generate dense identity-by-descent maps to map genes for human complex disease. In some studies the number of genotypes needed can approach or even exceed 1 million. Generally, linkage and linkage disequilibrium analys ... Full text Link to item Cite

Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.

Journal Article Ophthalmology · July 1996 Featured Publication PURPOSE: To determine whether an adult-onset variety of primary open-angle glaucoma in family UM:POAG1 is linked to the previously mapped GLC1A juvenile-onset primary open-angle glaucoma locus on chromosome 1q or whether linkage can be excluded. METHODS: M ... Full text Link to item Cite

Genetics of middle-age onset primary open angle glaucoma

Journal Article Investigative Ophthalmology and Visual Science · February 15, 1996 Purpose: To determine whether an adult-onset variety of primary open-angle glaucoma in family UM:POAG1 is linked to the previously mapped GLC1A juvenile-onset primary open-angle glaucoma locus on chromosome 1q or whether linkage can be excluded. Metnods: M ... Cite

Genetics of middle-age onset primary open angle glaucoma.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · 1996 Cite

Affected-sib-pair interval mapping and exclusion for complex genetic traits: sampling considerations.

Journal Article Genet Epidemiol · 1996 Featured Publication We describe an extension of Risch's [(1990a,b) Am J Hum Genet 46:222-228, 229-241] method of linkage detection and exclusion for complex genetic traits. The method uses interval mapping to infer disease locus identity-by-descent (IBD) sharing for affected ... Full text Link to item Cite

Genetic analysis of eight breast-ovarian cancer families with suspected BRCA1 mutations.

Journal Article J Natl Cancer Inst Monogr · 1995 Featured Publication BRCA1 is a breast cancer-related tumor suppressor gene located on human chromosome 17q21. Inherited mutations in BRCA1 are thought to be responsible for approximately half of all inherited breast cancer and to confer increased risk for ovarian, colon, or p ... Link to item Cite

A radiation hybrid map of the distal short arm of human chromosome 11, containing the Beckwith-Wiedemann and associated embryonal tumor disease loci.

Journal Article Am J Hum Genet · May 1993 We describe a high-resolution radiation hybrid (RH) map of the distal short arm of human chromosome 11 containing the Beckwith-Wiedemann gene and the associated embryonal tumor disease loci. Thirteen human 11p15 genes and 17 new anonymous probes were mappe ... Link to item Cite

BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis.

Journal Article Am J Hum Genet · April 1993 Featured Publication Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which appears to be inherited as an autosomal dominant susceptibili ... Link to item Cite

Increased hypothalamic [3H]flunitrazepam binding in hypothalamic-pituitary-adrenal axis hyporesponsive Lewis rats.

Journal Article Brain Res · January 13, 1992 We have previously demonstrated that susceptibility of Lewis (LEW/N) rats to inflammatory disease, compared to relatively resistant Fischer (F344/N) rats, is related to deficient glucocorticoid counter-regulation of the immune response resulting from defic ... Full text Link to item Cite

Prospective treatment of urea cycle disorders.

Journal Article J Pediatr · December 1991 Featured Publication We present a diagnostic and therapeutic protocol designed to prevent clinical expression of inborn errors of urea synthesis in the neonatal period, and discuss the long-term developmental outcome of survivors. The families of 32 infants, among 43 identifie ... Full text Link to item Cite

Effects of charcoal-extracted follicular fluid on reproductive function in postpartum cows.

Journal Article Domest Anim Endocrinol · January 1991 In order to determine the role of follicle-stimulating hormone (FSH) on the resumption of ovarian function in cows early postpartum (PP), bovine follicular fluid (FF) was used to selectively suppress concentrations of FSH. Calves were removed from all cows ... Full text Link to item Cite

Late-onset ornithine transcarbamylase deficiency in male patients.

Journal Article J Pediatr · December 1990 Featured Publication We report on 21 male patients who presented after 28 days of age with ornithine transcarbamylase (OTC) deficiency, which we define as late-onset OTC deficiency. These patients appeared normal at birth, but irritability, vomiting, and lethargy, which were o ... Full text Link to item Cite

Allopurinol-induced orotidinuria.

Journal Article N Engl J Med · November 8, 1990 Link to item Cite

Effects of fat supplementation and immature alfalfa to concentrate ratio on plasma progesterone, energy balance and reproductive traits of dairy cattle.

Journal Article J Dairy Sci · October 1990 Forty-six multiparous Holstein cows were assigned at 5 d postpartum to a completely randomized design employing a 2 x 3 factorial arrangement of treatments. Factors were 0 and 5% added prilled long-chain fatty acids (DM basis) and three forage to concentra ... Full text Link to item Cite

Allopurinol-induced orotidinuria. A test for mutations at the ornithine carbamoyltransferase locus in women.

Journal Article N Engl J Med · June 7, 1990 Featured Publication Ornithine carbamoyltransferase is an X-linked mitochondrial enzyme expressed in hepatocytes and enterocytes. A deficiency of this enzyme results in central nervous system dysfunction, which may be fatal in newborn boys. Milder forms are seen in older boys ... Full text Link to item Cite

Allopurinol-induced orotidinuria (Reply)

Journal Article New England Journal of Medicine · January 1, 1990 Cite

Sex differences in genetic associations with longevity in Han Chinese: sex-stratified genome-wide association study and polygenic risk score analysis

Scholarly Edition Based on sex-stratified genome-wide association study (GWAS) of Han Chinese, 2,178 centenarians and 2,299 middle-aged controls, we identified 11 male- and 12 female-specific independent loci that are significantly associated with longevity (P&l ... Cite