Explanipedia

Genome-wide meta-analysis identifies novel risk loci for uterine fibroids within and across multiple ancestry groups Open

Jeewoo Kim, Ariel Williams, Hannah Noh, Elizabeth A. Jasper, Sarah H. Jones , et al. · 2025

Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry Open

Fangfang Chen, Ravi Madduri, A.A. Rodriguez, B.F. Darst, Alisha Chou , et al. · 2024

A new test for trait mean and variance detects unreported loci for blood-pressure variation Open

Joseph H. Breeyear, Brian S. Mautz, Jacob M. Keaton, Jacklyn N. Hellwege, Eric S. Torstenson , et al. · 2024

Genome-wide association study identifies novel loci for type 2 diabetes-Attributed end-stage kidney disease in African Americans Open

Min‐Xin Guan, Jacob M. Keaton, Lazar Dimitrov, Andrew A. Hicks, Jianfeng Xu , et al. · 2024

Background: End-stage kidney disease (ESKD) is a significant public health concern disproportionately affecting African Americans (AAs). Type 2 diabetes (T2D) is the leading cause of ESKD in the USA, and efforts to uncover genetic suscepti…

EVALUATING THE RELATIONSHIPS BETWEEN GENETIC ANCESTRY AND THE CLINICAL PHENOME Open

Jacqueline A. Piekos, Jeewoo Kim, Jacob M. Keaton, Jacklyn N. Hellwege, Todd L. Edwards , et al. · 2023

There is a desire in research to move away from the concept of race as a clinical factor because it is a societal construct used as an imprecise proxy for geographic ancestry. In this study, we leverage the biobank from Vanderbilt Universi…

Systematic replication of smoking disease associations using survey responses and EHR data in the <i>All of Us</i> Research Program Open

David J. Schlueter, Lina Sulieman, Huan Mo, Jacob M. Keaton, Tracey M. Ferrara , et al. · 2023

Objective The All of Us Research Program (All of Us) aims to recruit over a million participants to further precision medicine. Essential to the verification of biobanks is a replication of known associations to establish validity. Here, w…

A genetically supported drug repurposing pipeline for diabetes treatment using electronic health records Open

Megan M. Shuey, Kyung Min Lee, Jacob M. Keaton, Nikhil K. Khankari, Joseph H. Breeyear , et al. · 2023

National Institutes of Health, Medical Research Council Integrative Epidemiology Unit at the University of Bristol, UK Medical Research Council, American Heart Association, and Department of Veterans Affairs (VA) Informatics and Computing …

Evidence of Novel Susceptibility Variants for Prostate Cancer and a Multiancestry Polygenic Risk Score Associated with Aggressive Disease in Men of African Ancestry Open

Fei Chen, Ravi Madduri, Alex A Rodriguez, Burcu F. Darst, Alisha Chou , et al. · 2023

A genetically supported drug repurposing pipeline for diabetes treatment using electronic health records Open

Megan M. Shuey, Kyung Min Lee, Jacob M. Keaton, Nikhil K. Khankari, Joseph H. Breeyear , et al. · 2022

Objectives The identification of novel uses for existing drug therapies has the potential to provide a rapid, low-cost approach to drug (re)discovery. In the current study we developed and tested a genetically-informed drug-repurposing pip…

Genetic architecture of heart failure with preserved versus reduced ejection fraction Open

Jacob Joseph, Chang Liu, Qin Hui, Krishna G. Aragam, Zeyuan Wang , et al. · 2022

Large-Scale Multi-Omics Studies Provide New Insights into Blood Pressure Regulation Open

Zoha Kamali, Jacob M. Keaton, Shaghayegh Haghjooy Javanmard, Todd L. Edwards, Harold Snieder , et al. · 2022

Recent genome-wide association studies uncovered part of blood pressure’s heritability. However, there is still a vast gap between genetics and biology that needs to be bridged. Here, we followed up blood pressure genome-wide summary stati…

Using Mendelian randomisation to identify opportunities for type 2 diabetes prevention by repurposing medications used for lipid management Open

Nikhil K. Khankari, Jacob M. Keaton, Venexia Walker, Kyung Min Lee, Megan M. Shuey , et al. · 2022

African ancestry genome-wide association study of blood pressure and hypertension identifies 25 novel loci through predicted gene expression Open

Jacklyn N. Hellwege, Jingjing Liang, Ayush Giri, Jacob M. Keaton, Xiao Sun , et al. · 2022

African Americans (AAs) experience a high burden of hypertension but have been underrepresented in genetic studies of blood pressure. We performed common and rare variant genome-wide association studies (GWAS) of systolic (SBP) and diastol…

Diastolic Blood Pressure Alleles Improve Congenital Heart Defect Repair Outcomes Open

Joseph H. Breeyear, Jacob M. Keaton, Eric S. Torstenson, Andrew Smith, Derek Klarin , et al. · 2022

Background: Congenital heart defects (CHDs) affect 40 000 US births per year, half of which require surgical intervention. Individual differences in surgical outcomes including mortality and complications are not well understood but may be…

Population pharmacokinetic analysis of dexmedetomidine in children using real‐world data from electronic health records and remnant specimens Open

Nathan T. James, Joseph H. Breeyear, Richard M. Caprioli, Todd L. Edwards, Brian Hachey , et al. · 2021

Aims Our objectives were to perform a population pharmacokinetic analysis of dexmedetomidine in children using remnant specimens and electronic health records (EHRs) and explore the impact of patient's characteristics and pharmacogenetics …

Evidence that geographic variation in genetic ancestry associates with uterine fibroids Open

Jacob M. Keaton, Elizabeth A. Jasper, Jacklyn N. Hellwege, Sarah H. Jones, Eric S. Torstenson , et al. · 2021

Genome-wide association study of vitamin D concentrations and bone mineral density in the African American-Diabetes Heart Study Open

Lingyi Lu, Thomas C. Register, Leon Lenchik, J. Jeffrey Carr, Andrew A. Hicks , et al. · 2021

Relative to European Americans, African Americans have lower 25-hydroxyvitamin D (25OHD) and vitamin D binding protein (VDBP) concentrations, higher 1,25-dihydroxyvitamin D (1,25(OH) 2 D 3 ) concentrations and bone mineral density (BMD), a…

Evidence That Geographic Variation in Genetic Ancestry Associates With Uterine Fibroids Open

Jacob M. Keaton, Elizabeth A. Jasper, Jacklyn N. Hellwege, Sarah H. Jones, Eric S. Torstenson , et al. · 2021

Uterine fibroids disproportionately impact African American (AA) women. Evidence suggests AA women have earlier onset and higher cumulative risk. This risk disparity may be due an imbalance of risk alleles in one parental geographic subpop…

Population Pharmacokinetic Analysis of Dexmedetomidine in Children using Real World Data from Electronic Health Records and Remnant Specimens Open

Nathan T. James, Joseph H. Breeyear, Richard M. Caprioli, Todd L. Edwards, Brian Hachey , et al. · 2021

Aim Our objectives were to perform a population pharmacokinetic analysis of dexmedetomidine in children using remnant specimens and data from electronic health records (EHRs) and explore the impact of patient’s characteristics and pharmaco…

Association Between Genetic Variation in Blood Pressure and Increased Lifetime Risk of Peripheral Artery Disease Open

Michael G. Levin, Derek Klarin, Venexia Walker, Dipender Gill, Julie A. Lynch , et al. · 2021

Objective: We aimed to estimate the effect of blood pressure (BP) traits and BP-lowering medications (via genetic proxies) on peripheral artery disease. Approach and Results: Genome-wide association studies summary statistics were obtained…

Associations of biogeographic ancestry with hypertension traits Open

Jacob M. Keaton, Jacklyn N. Hellwege, Ayush Giri, Eric S. Torstenson, Csaba P. Kövesdy , et al. · 2021

Objectives: Ethnic disparities in hypertension prevalence are well documented, though the influence of genetic ancestry is unclear. The aim of this study was to evaluate associations of geographic genetic ancestry with hypertension and und…

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

Marijana Vujković, Jacob M. Keaton, Julie A. Lynch, Donald R. Miller, Jin Zhou , et al. · 2020

A genome-wide association study of polycystic ovary syndrome identified from electronic health records Open

Yanfei Zhang, Kevin Ho, Jacob M. Keaton, Dustin N. Hartzel, Felix R. Day , et al. · 2020

A genome-wide association study of polycystic ovary syndrome identified from electronic health records Open

Yanfei Zhang, Kevin Ho, Jacob M. Keaton, Dustin N. Hartzel, Felix R. Day , et al. · 2019

Background Polycystic ovary syndrome (PCOS) is the most common endocrine disorder affecting women of reproductive age. Previous studies have identified genetic variants associated with PCOS identified by different diagnostic criteria. The …

Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis Open

Marijana Vujković, Jacob M. Keaton, Julie A. Lynch, Donald R. Miller, Jin Zhou , et al. · 2019

We investigated type 2 diabetes (T2D) genetic susceptibility in a multi-ethnic meta-analysis of 228,499 cases and 1,178,783 controls in the Million Veteran Program (MVP) and other biobanks. We identified 558 autosomal and 10 X-chromosome T…

Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program Open

Jacklyn N. Hellwege, Digna R. Velez Edwards, Ayush Giri, Chengxiang Qiu, Jihwan Park , et al. · 2019

A Trans-Ethnic Genome-Wide Association Study of Uterine Fibroids Open

Todd L. Edwards, Ayush Giri, Jacklyn N. Hellwege, Katherine E. Hartmann, Elizabeth A. Stewart , et al. · 2019

Uterine fibroids affect up to 77% of women by menopause and account for up to $34 billion in healthcare costs each year. Although fibroid risk is heritable, genetic risk for fibroids is not well understood. We conducted a two-stage case-co…

Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans Open

Meijian Guan, Jacob M. Keaton, Latchezar Dimitrov, Andrew A. Hicks, Jianzhao Xu , et al. · 2019

Additional file 1: of Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans Open

Meijian Guan, Jacob M. Keaton, Latchezar Dimitrov, Andrew A. Hicks, Jianzhao Xu , et al. · 2019

Figure S1. QQ plot of GWAS results of T2D-ESKD vs. non-diabetic non-nephropathy controls under baseline model. Figure S2. P value comparisons between baseline, APOL1-negative, and APOL1-adjusted models. Table S1. Study description. Table S…

An Exome-wide Association Study for Type 2 Diabetes–Attributed End-Stage Kidney Disease in African Americans Open

Meijian Guan, Jacob M. Keaton, Latchezar Dimitrov, Andrew A. Hicks, Jianzhao Xu , et al. · 2018

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