Michael Arthur Hauser

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

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

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

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

Polygenic risk scores for CARDINAL study.

Journal Article Nat Genet · May 2022 The Cardiometabolic Disorders in African-Ancestry Populations (CARDINAL) study site is a well-powered, first-of-its-kind resource for developing, refining and validating methods for research into polygenic risk scores that accounts for local ancestry, to i ... Full text Link to item Cite

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

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

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

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

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

Preprint · 2022 Full text Cite

Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes.

Journal Article Int J Mol Sci · September 24, 2021 Elevated intraocular pressure (IOP) is the only modifiable risk factor for primary open-angle glaucoma (POAG). Herein we sought to prioritize a set of previously identified IOP-associated genes using novel and previously published datasets. We identified s ... Full text Link to item Cite

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Journal Article Nat Commun · February 24, 2021 Primary open-angle glaucoma (POAG), is a heritable common cause of blindness world-wide. To identify risk loci, we conduct a large multi-ethnic meta-analysis of genome-wide association studies on a total of 34,179 cases and 349,321 controls, identifying 44 ... Full text Link to item Cite

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Journal Article JAMA · February 23, 2021 IMPORTANCE: Exfoliation syndrome is a systemic disorder characterized by progressive accumulation of abnormal fibrillar protein aggregates manifesting clinically in the anterior chamber of the eye. This disorder is the most commonly known cause of glaucoma ... Full text Link to item Cite

Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.

Journal Article Hum Mol Genet · July 29, 2020 Individuals with pseudoexfoliation (PEX) syndrome exhibit various connective tissue pathologies associated with dysregulated extracellular matrix homeostasis. PEX glaucoma is a common, aggressive form of open-angle glaucoma resulting from the deposition of ... Full text Link to item Cite

The genetic architecture of the human cerebral cortex.

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

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

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

Update on the genetics of primary open-angle glaucoma.

Journal Article Exp Eye Res · November 2019 Affecting nearly 80 million individuals, glaucoma is the number one cause of irreversible blindness in the world. This ocular disease describes a set of optic neuropathies of which primary open angle glaucoma (POAG) is the most common. POAG is associated w ... Full text Link to item Cite

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

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

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.

Journal Article Am J Ophthalmol · October 2019 PURPOSE: A genetic correlation is the proportion of phenotypic variance between traits that is shared on a genetic basis. Here we explore genetic correlations between diabetes- and glaucoma-related traits. DESIGN: Cross-sectional study. METHODS: We assembl ... Full text Link to item Cite

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

Journal Article JAMA Ophthalmol · October 1, 2019 IMPORTANCE: Genetic variants associated with primary open-angle glaucoma (POAG) are known to influence disease risk. However, the clinical effect of associated variants individually or in aggregate is not known. Genetic risk scores (GRS) examine the cumula ... Full text Link to item Cite

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

Journal Article Commun Biol · 2019 A new avenue of mining published genome-wide association studies includes the joint analysis of related traits. The power of this approach depends on the genetic correlation of traits, which reflects the number of pleiotropic loci, i.e. genetic loci influe ... Full text Link to item Cite

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

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

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

Conference Hum Genet · October 2018 Primary open angle glaucoma (POAG) is a complex disease with a major genetic contribution. Its prevalence varies greatly among ethnic groups, and is up to five times more frequent in black African populations compared to Europeans. So far, worldwide effort ... Full text Link to item Cite

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

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

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

Polygenic risk scores for CARDINAL study.

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

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

Genome-wide association study meta-analysis of suicide attempt identifies twelve genome-wide significant loci and implicates genetic risks for specific health factors

Preprint · 2022 Full text Cite

Identification of Estrogen Signaling in a Prioritization Study of Intraocular Pressure-Associated Genes.

Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries.

Association of Rare CYP39A1 Variants With Exfoliation Syndrome Involving the Anterior Chamber of the Eye.

Identification and activity of the functional complex between hnRNPL and the pseudoexfoliation syndrome-associated lncRNA, LOXL1-AS1.

The genetic architecture of the human cerebral cortex.

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

Update on the genetics of primary open-angle glaucoma.

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

Genetic Correlations Between Diabetes and Glaucoma: An Analysis of Continuous and Dichotomous Phenotypes.

Association of a Primary Open-Angle Glaucoma Genetic Risk Score With Earlier Age at Diagnosis.

Multi-trait genome-wide association study identifies new loci associated with optic disc parameters.

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

Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations.

A Common Glaucoma-risk Variant of SIX6 Alters Retinal Nerve Fiber Layer and Optic Disc Measures in a European Population: The EPIC-Norfolk Eye Study.

Journal Article J Glaucoma · September 2018 PURPOSE: A common missense variant in the SIX6 gene (rs33912345) is strongly associated with primary open-angle glaucoma (POAG). We aimed to examine the association of rs33912345 with optic disc and retinal nerve fiber layer (RNFL) measures in a European p ... Full text Link to item Cite

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

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

Differential Expression of Coding and Long Noncoding RNAs in Keratoconus-Affected Corneas.

Journal Article Invest Ophthalmol Vis Sci · June 1, 2018 PURPOSE: Keratoconus (KC) is the most common corneal ectasia. We aimed to determine the differential expression of coding and long noncoding RNAs (lncRNAs) in human corneas affected with KC. METHODS: From the corneas of 10 KC patients and 8 non-KC healthy ... Full text Open Access Link to item Cite

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

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

Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases.

Journal Article Nat Commun · May 14, 2018 Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for kn ... Full text Link to item Cite

Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma.

Journal Article Hum Mol Genet · April 15, 2018 Primary open-angle glaucoma (POAG) is the leading cause of irreversible blindness worldwide for which 15 disease-associated loci had been discovered. Among them, only 5 loci have been associated with POAG in Asians. We carried out a genome-wide association ... Full text Link to item Cite

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

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

lncRNAs, DNA Methylation, and the Pathobiology of Exfoliation Glaucoma.

Journal Article J Glaucoma · March 2018 Exfoliation glaucoma (XFG) is a clinically aggressive and genetically distinct form of glaucoma that results in neuronal death and irreversible blindness. Gene variants associate with many neurodegenerative diseases including XFG, Parkinson's disease (PD) ... Full text Link to item Cite

Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma.

Journal Article Sci Rep · February 15, 2018 Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG cases and 6,750 unscreened controls, and meta-analysed the results with GWAS data for intraocula ... Full text Link to item Cite

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

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

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

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

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

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

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

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

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

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

Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility.

Journal Article Nat Commun · November 24, 2017 Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor for primary open angle glaucoma and currently the only target for glaucoma therapy. Our study he ... Full text Link to item Cite

Modeling Glaucoma: Retinal Ganglion Cells Generated from Induced Pluripotent Stem Cells of Patients with SIX6 Risk Allele Show Developmental Abnormalities.

Journal Article Stem Cells · November 2017 Glaucoma represents a group of multifactorial diseases with a unifying pathology of progressive retinal ganglion cell (RGC) degeneration, causing irreversible vision loss. To test the hypothesis that RGCs are intrinsically vulnerable in glaucoma, we have d ... Full text Link to item Cite

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

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

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

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

Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci.

Journal Article Nat Genet · July 2017 Exfoliation syndrome (XFS) is the most common known risk factor for secondary glaucoma and a major cause of blindness worldwide. Variants in two genes, LOXL1 and CACNA1A, have previously been associated with XFS. To further elucidate the genetic basis of X ... Full text Link to item Cite

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits.

Journal Article Genome Med · March 27, 2017 BACKGROUND: Age-related macular degeneration (AMD) is a common condition of vision loss with disease development strongly influenced by environmental and genetic factors. Recently, 34 loci were associated with AMD at genome-wide significance. So far, littl ... Full text Link to item Cite

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

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

Recombinant Haplotypes Narrow the ARMS2/HTRA1 Association Signal for Age-Related Macular Degeneration.

Journal Article Genetics · February 2017 Age-related macular degeneration (AMD) is the leading cause of blindness in ageing societies, triggered by both environmental and genetic factors. The strongest genetic signal for AMD with odds ratios of up to 2.8 per adverse allele was found previously ov ... Full text Link to item Cite

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

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

Major review: Exfoliation syndrome; advances in disease genetics, molecular biology, and epidemiology.

Journal Article Exp Eye Res · January 2017 Exfoliation syndrome (XFS) is a common age-related disorder that leads to deposition of extracellular fibrillar material throughout the body. The most recognized disease manifestation is exfoliation glaucoma (XFG), which is a common cause of blindness worl ... Full text Link to item Cite

Epistatic Gene-Based Interaction Analyses for Glaucoma in eMERGE and NEIGHBOR Consortium.

Journal Article PLoS Genet · September 2016 Primary open angle glaucoma (POAG) is a complex disease and is one of the major leading causes of blindness worldwide. Genome-wide association studies have successfully identified several common variants associated with glaucoma; however, most of these var ... Full text Link to item Cite

Assessing the Association of Mitochondrial Genetic Variation With Primary Open-Angle Glaucoma Using Gene-Set Analyses.

Journal Article Invest Ophthalmol Vis Sci · September 1, 2016 PURPOSE: Recent studies indicate that mitochondrial proteins may contribute to the pathogenesis of primary open-angle glaucoma (POAG). In this study, we examined the association between POAG and common variations in gene-encoding mitochondrial proteins. ME ... Full text Link to item Cite

miRNA-Seq in four different normal human ocular tissues

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Differential gene expression and pathway enrichment in the human cornea and retina

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Genome-wide association study comparing patients with exfoliation syndrome and exfoliation glaucoma.

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Testosterone pathway polymorphisms in relation to primary open angle glaucoma: an analysis stratified by sex

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

DNA methylation in Human SC Cells with Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Genome-Wide Pathway Approach to Dissecting Primary Open-Angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

A lncRNA in the LOXL1 locus modulates expression of genes relevant to exfoliation glaucoma pathobiology

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Association of miR-182 with High Tension Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

Genetic Association and Linkage at Putative Risk Loci for Primary Open-angle Glaucoma

Conference INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · September 1, 2016 Link to item Cite

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium.

Journal Article Invest Ophthalmol Vis Sci · August 1, 2016 PURPOSE: Noncoding microRNAs (miRNAs) have been implicated in the pathogenesis of glaucoma. We aimed to identify common variants in miRNA coding genes (MIR) associated with primary open-angle glaucoma (POAG). METHODS: Using the NEIGHBORHOOD data set (3853 ... Full text Link to item Cite

miRNA Profile in Three Different Normal Human Ocular Tissues by miRNA-Seq.

Journal Article Invest Ophthalmol Vis Sci · July 1, 2016 PURPOSE: Because microRNAs (miRNAs) have been associated with eye diseases, our study aims to profile ocular miRNA expression in normal human ciliary body (CB), cornea, and trabecular meshwork (TM) using miRNA-Seq to provide a foundation for better underst ... Full text Link to item Cite

Addressing ethical challenges in the Genetics Substudy of the National Eye Survey of Trinidad and Tobago (GSNESTT).

Journal Article Appl Transl Genom · June 2016 BACKGROUND: The conduct of international collaborative genomics research raises distinct ethical challenges that require special consideration, especially if conducted in settings that are research-naïve or resource-limited. Although there is considerable ... Full text Link to item Cite

Genome-wide association study identifies five new susceptibility loci for primary angle closure glaucoma.

Journal Article Nat Genet · May 2016 Primary angle closure glaucoma (PACG) is a major cause of blindness worldwide. We conducted a genome-wide association study (GWAS) followed by replication in a combined total of 10,503 PACG cases and 29,567 controls drawn from 24 countries across Asia, Aus ... Full text Link to item Cite

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants.

Journal Article Nat Genet · February 2016 Advanced age-related macular degeneration (AMD) is the leading cause of blindness in the elderly, with limited therapeutic options. Here we report on a study of >12 million variants, including 163,714 directly genotyped, mostly rare, protein-altering varia ... Full text Link to item Cite

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

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

A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium

Journal Article INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE · 2016 Full text Cite

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

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

Expression Profiling of Human Schlemm's Canal Endothelial Cells From Eyes With and Without Glaucoma.

Journal Article Invest Ophthalmol Vis Sci · October 2015 PURPOSE: Ocular hypertension is a major risk factor for glaucoma and the inner wall of Schlemm's canal (SC) endothelia participates in the regulation of aqueous humor outflow resistance. This study aimed to identify differentially expressed genes in primar ... Full text Link to item Cite

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

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

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

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

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

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

Case-control association between CCT-associated variants and keratoconus in a Saudi Arabian population.

Journal Article J Negat Results Biomed · June 4, 2015 BACKGROUND: Keratoconus (KC) is the most common primary ectatic disease of the cornea and a major indication for corneal transplant. To date, limited KC-associated-risk loci have been identified. Association has recently been suggested between KC and 8 sin ... Full text Link to item Cite