Journal ArticlePsychiatry Res · August 2026
Exposure to toxic substances has been linked to poorer mental health among U.S. military veterans broadly, but less is known about specific psychiatric outcomes, such as suicidal thoughts and behaviors (STBs). In the current observational cohort study, we ...
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Journal ArticleHum Mol Genet · May 11, 2026
Gulf War Illness (GWI) is a multi-symptom chronic condition that affects Veterans who served in the 1990-1991 Gulf War (GW). To generate novel information about GWI pathogenesis, we used genome-wide data available from 33 523 Veterans of diverse ancestral ...
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Journal ArticleHum Genomics · March 27, 2026
UNLABELLED: Veterans of the 1990–1991 Gulf War (GW) experienced an elevated burden of chronic health conditions, most notably Gulf War Illness (GWI). While the disease etiology remains unclear, it is hypothesized that both genetic susceptibility and deploy ...
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Journal ArticleMol Psychiatry · December 2025
Suicidality phenotypes, consisting of suicidal ideation (SI), suicide attempt (SA), and suicide death (SD), are all heritable but present unique challenges in genome-wide association studies (GWAS) due to their individual complexity, overlap with each othe ...
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Journal ArticleAlcohol Clinical and Experimental Research · November 1, 2025
Background: Alcohol use and alcohol use disorder (AUD) are significant contributors to morbidity and mortality, with different prevalences between males and females. Despite the established genetic contribution to AUD, sex as a biological variable and the ...
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Journal ArticleNat Genet · November 2025
The high burden of dilated cardiomyopathy (DCM) in individuals of African descent remains incompletely explained. Here, to explore a genetic basis, we conducted a genome-wide association study in 1,802 DCM cases and 93,804 controls of African genetic ances ...
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Journal ArticleSci Total Environ · October 15, 2025
BACKGROUND: Accelerated transcriptomic and/or epigenetic age have been proposed as biomarkers of disrupted systemic health and of increased sensitivity to environmental exposures. Previously, we observed epigenetic age acceleration as a biomarker of sensit ...
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Journal ArticleNat Commun · October 1, 2025
Polygenic risk scores hold prognostic value for identifying individuals at higher risk of type 2 diabetes. However, further characterization is needed to understand the generalizability of type 2 diabetes polygenic risk scores in diverse populations across ...
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Journal ArticlemedRxiv · August 24, 2025
Suicidal thoughts and behaviors originate from heterogeneous mechanisms, including behavioral disinhibition characteristic of "externalizing" disorders (e.g., substance use disorders, antisocial personality disorder, etc.). Prior work has demonstrated stro ...
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Journal ArticleMol Psychiatry · August 2025
Although both short and long sleep duration are associated with elevated hypertension risk, our understanding of their interplay with biological pathways governing blood pressure remains limited. To address this, we carried out genome-wide cross-population ...
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Journal ArticleFed Pract · August 2025
BACKGROUND: Understanding associations between diet and long-term risk for colorectal cancer (CRC) among US veterans may provide insight for patient-clinician decisions about lifestyle recommendations as part of a CRC screening program. METHODS: Asymptomat ...
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Journal ArticleAlzheimers Res Ther · July 24, 2025
BACKGROUND: Alzheimer's disease (AD) risk variants have been identified in European ancestry cohorts that have stronger effects at certain ages, in individuals with a specific sex, or in those with specific isoforms of APOE, the strongest AD risk locus. Ho ...
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Journal ArticleJ Aging Health · June 2025
Objectives: To examine whether severe Gulf War illness (SGWI) case status was associated with longitudinal multimorbidity patterns. Methods: Participants were users of the Veteran Health Administration Health Care System drawn from the Gulf War Era Cohort ...
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Journal ArticleNAR Mol Med · April 2025
Understanding how exercise improves whole-body insulin sensitivity (Si) involves complex molecular signaling. This study examines skeletal muscle gene expression changes related to Si, considering sex differences, exercise amount, and intensity to identify ...
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Journal ArticleEur J Prev Cardiol · January 27, 2025
AIMS: Elevated lipoprotein(a) [Lp(a)] is a causal risk factor for atherosclerotic cardiovascular disease, but the mechanisms of risk are debated. Studies have found inconsistent associations between Lp(a) and measurements of atherosclerosis. We aimed to as ...
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Journal ArticleArch Dermatol Res · January 24, 2025
Cases for a disease can be defined broadly using diagnostic codes, or narrowly using gold-standard confirmation that often is not available in large administrative datasets. These different definitions can have significant impacts on the results and conclu ...
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Journal ArticleJ Psychiatr Res · December 2024
People with lower levels of social connection are at increased risk for suicidal thoughts and behaviors. This extends to populations at greater risk of death by suicide, including U.S. military veterans. Despite this well-established association, it is unc ...
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Journal ArticleCancer Epidemiol Biomarkers Prev · November 1, 2024
BACKGROUND: Risk for colorectal cancer may accumulate through multiple environmental factors. Understanding their effects, along with genetics, age, and family history, could allow improvements in clinical decisions for screening protocols. We aimed to ext ...
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Other · November 1, 2024
<p>Supplementary Table S2 shows the regression beta estimates and p-values for each e-Score risk factor for two training samples: 1) the Recalibrated MVP Male Training Sample, and 2) the GECCO Male Training Sample previously published by Jeon ...
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Other · November 1, 2024
<p>Supplementary Table S3 shows model fit statistics for five different sets if nested models calculated in this study: 1) Full Cohort; 2) Over 50 years old participants only; 3) Black race participants only; 4) Those who had at least one ide ...
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Other · November 1, 2024
<p>Supplement S1: This document lists acknowledgements for the VA Million Veteran Program Core used in publications as of March 2024</p> ...
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Other · November 1, 2024
<div>AbstractBackground:<p>Risk for colorectal cancer may accumulate through multiple environmental factors. Understanding their effects, along with genetics, age, and family history, could allow improvements in clinical decisions for s ...
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Other · November 1, 2024
<p>Supplementary Table S1 shows demographic and lifestyle characteristics for the total sample for the female participants of the Million Veteran Program with complete lifestyle data and by colorectal cancer (CRC) cases versus those without C ...
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Journal ArticleEnviron Health · October 25, 2024
BACKGROUND: Veterans of the 1990-1991 Gulf War have experienced excess health problems, most prominently the multisymptom condition Gulf War illness (GWI). The Department of Veterans Affairs (VA) Cooperative Studies Program #2006 "Genomics of Gulf War Illn ...
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Journal ArticleOccup Environ Med · October 23, 2024
OBJECTIVE: We aimed to characterise self-reported military and occupational exposures including Agent Orange, chemical/biological warfare agents, solvents, fuels, pesticides, metals and burn pits among Veterans in the Department of Veterans Affairs Million ...
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Journal ArticleHealth Psychol · October 2024
OBJECTIVE: Low neuroticism, high extraversion, and high conscientiousness are related to physical activity (PA). We tested whether the small size and heterogeneity of these relationships result because personality traits influence one another as well as be ...
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Journal ArticlemedRxiv · September 8, 2024
BACKGROUND: Understanding the causal pathways, systems, and mechanisms through which exercise impacts human health is complex. This study explores molecular signaling related to whole-body insulin sensitivity (Si) by examining changes in skeletal muscle ge ...
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Journal ArticleAlzheimers Res Ther · June 29, 2024
BACKGROUND: Posttraumatic stress disorder (PTSD) and traumatic brain injury (TBI) are associated with self-reported problems with cognition as well as risk for Alzheimer's disease and related dementias (ADRD). Overlapping symptom profiles observed in cogni ...
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Journal ArticleAging (Albany NY) · April 23, 2024
Research into aging has grown substantially with the creation of molecular biomarkers of biological age that can be used to determine age acceleration. Concurrently, nuclear magnetic resonance (NMR) assessment of biomarkers of inflammation and metabolism p ...
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Journal ArticleAnn Behav Med · April 11, 2024
BACKGROUND: Despite the benefits of exercise, many individuals are unable or unwilling to adopt an exercise intervention. PURPOSE: The purpose of this analysis was to identify putative genetic variants associated with dropout from exercise training interve ...
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Journal ArticleSci Rep · April 5, 2024
The Phenome-Wide Association Study (PheWAS) is increasingly used to broadly screen for potential treatment effects, e.g., IL6R variant as a proxy for IL6R antagonists. This approach offers an opportunity to address the limited power in clinical trials to s ...
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Journal ArticleJ 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 ...
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Journal ArticleSci 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 ...
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Journal ArticleInt 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 ...
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Journal ArticleGastro Hep Adv · 2024
BACKGROUND AND AIMS: Colorectal cancer (CRC) polygenic risk scores (PRS) may help personalize CRC prevention strategies. We investigated whether an existing PRS was associated with advanced neoplasia (AN) in a population undergoing screening and follow-up ...
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Journal ArticleJ Frailty Aging · 2024
BACKGROUND: Veterans of the first Gulf War (1990-1991) are reaching middle and older adulthood in differing degrees of health and biological age. Many Gulf War veterans report myriad negative symptoms classified as Gulf War illness (GWI), a chronic multi-s ...
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Journal ArticleJ 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleHum Genomics · June 2, 2023
BACKGROUND: The Million Veteran Program (MVP) participants represent 100Â 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleNeurogastroenterol 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 ...
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Journal ArticleCancer 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 ...
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Journal ArticleAutism 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleJAMA 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 ...
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Journal ArticleObesity (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 ...
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Journal ArticleInt 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 ...
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Journal ArticleSci 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleCirc 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleOphthalmology · 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) ...
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Journal ArticleGastrointest 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleDig 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleSci 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleInt 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 ...
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Journal ArticleJAMA 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 ...
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Journal ArticleClin 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 ...
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Journal ArticleMol 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 ...
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Journal ArticleBrain Sci · February 27, 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 of the ...
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Journal ArticleCardiovasc 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/ ...
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Journal ArticleBiol 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleTransl 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 ...
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Journal ArticleBrain 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 ...
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Journal ArticleLife 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 ...
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Journal ArticleLife 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 ...
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Journal ArticleBrain 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleGenome 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleGenome 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleSci 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleAlzheimers 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 ...
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ConferenceFront 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 ...
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Journal ArticleFront 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 ...
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Journal ArticlemedRxiv · 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 ...
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Journal ArticleAging (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 ...
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Journal ArticleEnviron 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 ...
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ConferenceCancer 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. ...
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Journal ArticleTransl 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 ...
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Journal ArticleAppetite · August 1, 2020
OBJECTIVE: In order to better understand factors motivating eating disorder (ED) behaviors and better identify persons at-risk for these behaviors, we sought to identify which personality domains and facets were associated with behaviors for weight control ...
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Journal ArticleAm 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 ...
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Journal ArticleNat 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleGastroenterology · 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 ...
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Journal Article · 2020
ABSTRACT A 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 addiction in animals, but ...
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Journal ArticleSSM 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleTrials · 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, ...
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Journal ArticleAm 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleWomens 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 ...
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ConferenceJournal 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 ...
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Journal ArticleEnviron 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. ...
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ConferenceJournal 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleAm 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 ...
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Journal ArticlePart 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 ...
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Journal ArticleJAMA 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 ...
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Journal ArticleJAMA 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleArterioscler 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 ...
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Journal ArticleFront 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleFront 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleCardiovasc 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 ...
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Journal ArticleMetabolites · 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 ...
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Journal ArticleAm 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 ...
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ConferenceJournal 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- ...
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Journal ArticleJ 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, ...
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Journal ArticleJ 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 ...
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Journal ArticleCardiorenal 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 ...
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Journal ArticleSci 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleRejuvenation 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleSci 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleJ 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleKidney 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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleHeart 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 ...
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Journal ArticleEur 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleHeart 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 ...
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Journal ArticleCirc 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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleInt 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 ...
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OtherCirc 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 ...
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Journal ArticleFam 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 ...
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Journal ArticleAm 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleAtherosclerosis · 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleHum 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 ( ...
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Journal ArticleDig 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleBMC 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 ...
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ConferenceHeart · May 2013
BackgroundChromosome 9p21 variants have been strongly associated with coronary heart disease in genome-wide association studies, but questions remain on the mechanism of risk, ...
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Journal ArticleAm 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 ...
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Journal ArticlePer 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 ...
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Journal ArticleBiol 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleHum 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 ...
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Journal ArticleEnviron 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 ...
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Journal ArticleN 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleFront 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 ...
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Journal ArticleJ 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleGenome Res · February 2012
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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 ...
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Journal ArticleBMC Health Serv Res · October 11, 2011
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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 ...
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Journal ArticleGenes 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 ...
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Journal ArticleHum Genet · June 2011
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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 ...
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Journal ArticleJ Hum Genet · March 2011
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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 ...
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Journal ArticleJ Gerontol A Biol Sci Med Sci · December 2010
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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 ...
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Journal ArticleAm Heart J · September 2010
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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 ...
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Journal ArticleJ 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 ...
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Journal ArticleHum Mol Genet · July 15, 2010
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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 ...
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Journal ArticleGenet Epidemiol · July 2010
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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 ...
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Journal ArticleCirc Cardiovasc Genet · April 2010
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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 ...
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Journal ArticleArthritis Rheum · March 2010
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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 ...
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Journal ArticleStat Appl Genet Mol Biol · 2010
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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 ...
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Journal ArticleAnn Hum Genet · November 2009
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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 ...
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Journal ArticleHum Genomics · April 2009
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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 ...
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Journal ArticleHum Genet · March 2009
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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 ...
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Journal ArticleMol Syst Biol · 2009
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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 ...
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Journal ArticlePLoS Genet · January 2009
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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 ...
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Journal ArticleGenet 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 ...
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Journal ArticleGenet Epidemiol · November 2008
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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 ...
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Journal ArticleAtherosclerosis · November 2008
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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 ...
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Journal ArticleAnn Hum Genet · July 2008
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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 ...
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Journal ArticleHum Mol Genet · May 1, 2008
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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 ...
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Journal ArticleBMC Med Genet · April 22, 2008
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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 ...
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Journal ArticleHum Hered · 2008
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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 ...
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Journal ArticleGenet Epidemiol · September 2007
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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 ...
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Journal ArticleAm J Hum Genet · April 2007
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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 ...
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Journal ArticleGenet Epidemiol · February 2007
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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. ...
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Journal ArticleGenet 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 ...
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Journal ArticleObstet Gynecol · January 2007
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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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleAnn Hum Genet · November 2006
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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 ...
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Journal ArticleAm J Obstet Gynecol · November 2006
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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 ...
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Journal ArticlePLoS Genet · August 25, 2006
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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 ...
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Journal ArticlePLoS 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 ...
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Journal ArticleGenet Epidemiol · July 2006
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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 ...
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Journal ArticleHum Hered · 2006
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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 ...
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Journal ArticleBMC Genet · December 30, 2005
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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 ...
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Journal ArticleJ Med Genet · December 2005
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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 ...
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Journal ArticleBioinformatics · November 15, 2005
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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 ...
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Journal ArticleInvest Ophthalmol Vis Sci · June 2005
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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 ...
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Journal ArticleBMC Bioinformatics · April 12, 2005
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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 ...
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Journal ArticleAm 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 ...
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Journal ArticleStat Appl Genet Mol Biol · 2005
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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 ...
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Journal ArticleHum Hered · 2005
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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 ...
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Journal ArticleStatistical 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 ...
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Journal ArticleAm J Hum Genet · September 2004
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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 ...
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Journal ArticleBMC Genet · July 6, 2004
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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 ...
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Journal ArticleBMC 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 ...
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Journal ArticleGenet Epidemiol · July 2004
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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 ...
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Journal ArticleDiabetes · March 2004
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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 ...
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Journal ArticlePac Symp Biocomput · 2004
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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 ...
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Journal ArticleBMC Genet · December 31, 2003
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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 ...
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Journal ArticleGenet Epidemiol · November 2003
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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 ...
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Journal ArticleAm J Hum Genet · November 2003
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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 ...
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Journal ArticleAm J Hum Genet · November 2003
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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 ...
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Journal ArticleBlood · August 1, 2003
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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 ...
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Journal ArticleAm Heart J · April 2003
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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 ...
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Journal ArticleHum 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 ...
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Journal ArticleAm J Hum Genet · March 2003
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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 ...
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Journal ArticleGenet Epidemiol · 2003
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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 ...
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Journal ArticleGenetics · 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- ...
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Journal ArticleCurr 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- ...
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Journal ArticleGenet Epidemiol · 2001
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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 ...
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Journal ArticleAm J Hum Genet · November 2000
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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 ...
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Journal ArticleAm J Hum Genet · November 2000
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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 ...
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Journal ArticleNeurogenetics · March 2000
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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 ...
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Journal ArticleZ Kardiol · 2000
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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 ...
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Journal ArticleHum Hered · June 1999
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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 ...
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Journal ArticleProc Natl Acad Sci U S A · March 2, 1999
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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 ...
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Journal ArticleDiabetologia · February 1999
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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 ...
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Journal ArticleGenet Epidemiol · 1999
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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 ...
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Journal ArticleBiometrics · December 1998
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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 ...
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Journal ArticleJ Clin Invest · August 15, 1998
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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 ...
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Journal ArticleDiabetes Care · June 1998
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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 ...
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Journal ArticleGenome Res · February 1997
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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 ...
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Journal ArticleOphthalmology · July 1996
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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 ...
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Journal ArticleInvestigative 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 ...
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Journal ArticleGenet Epidemiol · 1996
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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 ...
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Journal ArticleJ Natl Cancer Inst Monogr · 1995
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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 ...
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Journal ArticleAm 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 ...
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Journal ArticleAm J Hum Genet · April 1993
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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 ...
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Journal ArticleBrain 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 ...
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Journal ArticleJ Pediatr · December 1991
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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 ...
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Journal ArticleDomest 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 ...
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Journal ArticleJ Pediatr · December 1990
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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 ...
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Journal ArticleJ 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 ...
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Journal ArticleN Engl J Med · June 7, 1990
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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 ...
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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 ...
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