Donald E. Humphries

Performance of Polygenic Risk Scores for Primary Open-Angle Glaucoma in Populations of African Descent

Jennifer M. Chang‐Wolf, Tyler G. Kinzy, Sjoerd J. Driessen, Lauren A. Cruz et autres

Importance: Primary open-angle glaucoma (POAG) polygenic risk scores (PRSs) continue to be evaluated in primarily European-ancestry populations despite higher prevalence and worse outcomes in African-ancestry populations. Objective: To evaluate how established POAG PRSs perform in African-ancestry samples from the Genetics in Glaucoma …

us, nl, sg, Afrique du Sud, Nigéria, ch (code pays fourni par la source)

Correlates of Risk for Disinhibited Behaviors in the Million Veteran Program Cohort

Peter B. Barr, Tim B. Bigdeli, Jacquelyn Leigh Meyers, Roseann Elizabeth Peterson et autres

Importance: Many psychiatric outcomes share a common etiologic pathway reflecting behavioral disinhibition, generally referred to as externalizing (EXT) disorders. Recent genome-wide association studies (GWASs) have demonstrated the overlap between EXT disorders and important aspects of veterans' health, such as suicide-related behaviors and …

us (code pays fourni par la source)

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

Nathan A. Kimbrel, Allison E. Ashley‐Koch, Xuejun Qin, Jennifer H. Lindquist et autres

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 genome-wide association study included 633 778 …

us (code pays fourni par la source)

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

Alexander E. Katz, Min‐Lee Yang, Michael G. Levin, Catherine Tcheandjieu et autres

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 histories for 73 probands with FMD …

us (code pays fourni par la source)

Penetrance and Pleiotropy of Polygenic Risk Scores for Schizophrenia, Bipolar Disorder, and Depression Among Adults in the US Veterans Affairs Health Care System

Tim B. Bigdeli, Georgios Voloudakis, Peter B. Barr, Bryan R. Gorman et autres

Importance: Serious mental illnesses, including schizophrenia, bipolar disorder, and depression, are heritable, highly multifactorial disorders and major causes of disability worldwide. Objective: To benchmark the penetrance of current neuropsychiatric polygenic risk scores (PRSs) in the Veterans Health Administration health care system and …

us, ca (code pays fourni par la source)

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

Minsu Kim, Jennifer E. Huffman, Amy C. Justice, Ian Goethert et autres

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 susceptibility to certain types of cancer and predisposed responsiveness …

us (code pays fourni par la source)

Association of Kidney Comorbidities and Acute Kidney Failure With Unfavorable Outcomes After COVID-19 in Individuals With the Sickle Cell Trait

Anurag Verma, Jennifer E. Huffman, Lina Gao, Jessica Minnier et autres

Importance: Sickle cell trait (SCT), defined as the presence of 1 hemoglobin beta sickle allele (rs334-T) and 1 normal beta allele, is prevalent in millions of people in the US, particularly in individuals of African and Hispanic ancestry. However, the association of …

us (code pays fourni par la source)

Glaucoma Genetic Risk Scores in the Million Veteran Program

Andrea R. Waksmunski, Tyler G. Kinzy, Lauren A. Cruz, Cari L. Nealon et autres

us (code pays fourni par la source)

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

Niamh Mullins, Jooeun Kang, Adrián I. Campos, Jonathan R. I. Coleman et autres

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 and partially distinct from …

us, au, gb, dk, tw, jp, no, de, fr, es, ca, sa, ch, ru, se, cz, pt, br, nl (code pays fourni par la source)

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

Raha Pazoki, Marijana Vujković, Joshua Elliott, Evangelos Evangelou et autres

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 data on 437,438 UK Biobank participants. Replication in 315,572 …

gb, us, gr, ir, nl, at, pl, fi (code pays fourni par la source)

An analysis of gene expression in PTSD implicates genes involved in the glucocorticoid receptor pathway and neural responses to stress

Mark W. Miller, Mark W. Logue, Andrew D. Ratanatharathorn, Allison E. Aiello et autres

We examined the association between posttraumatic stress disorder (PTSD) and gene expression using whole blood samples from a cohort of trauma-exposed white non-Hispanic male veterans (115 cases and 28 controls). 10,264 probes of genes and gene transcripts were analyzed. We found 41 …

Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program

Derek M. Klarin, Shefali S. Verma, Renae Judy, Ozan Dikilitas et autres

Background: Abdominal aortic aneurysm (AAA) is an important cause of cardiovascular mortality; however, its genetic determinants remain incompletely defined. In total, 10 previously identified risk loci explain a small fraction of AAA heritability. Methods: We performed a genome-wide association study in the …

us, no, au, dk, nz, gb (code pays fourni par la source)