Advanced search    

Search: authors:"Eric Boerwinkle"

152 papers found.
Use AND, OR, NOT, +word, -word, "long phrase", (parentheses) to fine-tune your search.

Association of monocyte myeloperoxidase with incident cardiovascular disease: The Atherosclerosis Risk in Communities Study

Matsushita, Aaron R. Folsom. Supervision: Aaron R. Folsom. Validation: David Couper, Kunihiro Matsushita, Eric Boerwinkle. Writing ? original draft: Abayomi O. Oyenuga. Writing ? review & editing: David ... Couper, Kunihiro Matsushita, Eric Boerwinkle, Aaron R. Folsom. 7 / 9 8 / 9 carotid plaque characteristics: the Atherosclerosis Risk in Communities (ARIC) Carotid MRI Study. Eur Hear J. 2011; 32: 459?468

MicroRNAs in the miR-17 and miR-15 families are downregulated in chronic kidney disease with hypertension

Background In older adults (aged 70–74 years), African-Americans have 4-fold higher risk of developing hypertension-attributed end-stage renal disease (ESRD) than European-Americans. A hypothesized mechanism linking hypertension and progressive chronic kidney disease (CKD) is the innate immune response and inflammation. Persons with CKD are also more susceptible to infection...

A causal network analysis in an observational study identifies metabolomics pathways influencing plasma triglyceride levels

Introduction Plasma triglyceride levels are a risk factor for coronary heart disease. Triglyceride metabolism is well characterized, but challenges remain to identify novel paths to lower levels. A metabolomics analysis may help identify such novel pathways and, therefore, provide hints about new drug targets. Objectives In an observational study, causal relationships in the...

Rare variants analysis using penalization methods for whole genome sequence data

Background Availability of affordable and accessible whole genome sequencing for biomedical applications poses a number of statistical challenges and opportunities, particularly related to the analysis of rare variants and sparseness of the data. Although efforts have been devoted to address these challenges, the performance of statistical methods for rare variants analysis still...

Whole exome sequence-based association analyses of plasma amyloid-β in African and European Americans; the Atherosclerosis Risk in Communities-Neurocognitive Study

and staffs of the Atherosclerosis Risk in Communities (ARIC) Study and the Framingham Heart Study (FHS) for their Conceptualization: Eric Boerwinkle, Thomas H. Mosley, Jr. Formal analysis: Jeannette ... Simino, Zhiying Wang, Qiong Yang. Funding acquisition: Sudha Seshadri, Eric Boerwinkle, Thomas H. Mosley, Jr. Investigation: Steven G. Younkin. Project administration: Sudha Seshadri, Eric Boerwinkle

In silico prediction of splice-altering single nucleotide variants in the human genome

In silico tools have been developed to predict variants that may have an impact on pre-mRNA splicing. The major limitation of the application of these tools to basic research and clinical practice is the difficulty in interpreting the output. Most tools only predict potential splice sites given a DNA sequence without measuring splicing signal changes caused by a variant. Another...

Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC)

Blood pressure (BP) is a heritable trait with multiple environmental and genetic contributions, with current heritability estimates from twin and family studies being ~ 40%. Here, we use genome-wide polymorphism data from the Atherosclerosis Risk in Communities (ARIC) study to estimate BP heritability from genomic relatedness among cohort members. We utilized data on 6,365,596...

Cerebral white matter hyperintensities on MRI and acceleration of epigenetic aging: the atherosclerosis risk in communities study

Background Cerebral white matter hyperintensities (WMH) on magnetic resonance imaging (MRI) are part of the spectrum of brain vascular injury accompanying aging and are associated with a substantial risk of stroke and dementia. We investigated the association of cerebral WMH burden on MRI with a DNA methylation-based biomarker of aging, termed DNA methylation age acceleration...

Genome-Wide Association of Copy Number Polymorphisms and Kidney Function

Genome-wide association studies (GWAS) using single nucleotide polymorphisms (SNPs) have identified more than 50 loci associated with estimated glomerular filtration rate (eGFR), a measure of kidney function. However, significant SNPs account for a small proportion of eGFR variability. Other forms of genetic variation have not been comprehensively evaluated for association with...

Whole Transcriptome Sequencing Analyses Reveal Molecular Markers of Blood Pressure Response to Thiazide Diuretics

. McDonough 1 Somnath Datta 5 TaimourY. Langaee Eric Boerwinkle 9 John G. Gums 10 Steven E. Scherer 11 Rhonda M. Cooper-DeHoff 0 1 Stephen T. Turner 1 6 Amber L. Beitelshees 7 Arlene B. Chapman 8 Wolfgang Sadee

Whole genome sequence analysis of serum amino acid levels

Background Blood levels of amino acids are important biomarkers of disease and are influenced by synthesis, protein degradation, and gene–environment interactions. Whole genome sequence analysis of amino acid levels may establish a paradigm for analyzing quantitative risk factors. Results In a discovery cohort of 1872 African Americans and a replication cohort of 1552 European...

Sequence variation in telomerase reverse transcriptase (TERT) as a determinant of risk of cardiovascular disease: the Atherosclerosis Risk in Communities (ARIC) study

Background Telomerase reverse transcriptase (TERT) maintains telomere ends during DNA replication by catalyzing the addition of short telomere repeats. The expression of telomerase is normally repressed in somatic cells leading to a gradual shortening of telomeres and cellular senescence with aging. Interindividual variation in leukocyte telomere length has been previously...

In silico tools for splicing defect prediction: a survey from the viewpoint of end users

AffiliationsDivision of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USAXueqiu Jian, Eric Boerwinkle ...  & Xiaoming LiuHuman Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USAEric Boerwinkle AuthorsSearch for Xueqiu Jian in:Nature Research journals • PubMed • Google ScholarSearch for Eric

Causal Role of Alcohol Consumption in an Improved Lipid Profile: The Atherosclerosis Risk in Communities (ARIC) Study

Introduction Health benefits of low-to-moderate alcohol consumption may operate through an improved lipid profile. A Mendelian randomization (MR) approach was used to examine whether alcohol consumption causally affects lipid levels. Methods This analysis involved 10,893 European Americans (EA) from the Atherosclerosis Risk in Communities (ARIC) study. Common and rare variants in...

Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies

Accurate deleteriousness prediction for nonsynonymous variants is crucial for distinguishing pathogenic mutations from background polymorphisms in whole exome sequencing (WES) studies. Although many deleteriousness prediction methods have been developed, their prediction results are sometimes inconsistent with each other and their relative merits are still unclear in practical...

Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

Background Left-sided lesions (LSLs) account for an important fraction of severe congenital cardiovascular malformations (CVMs). The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify...

Interaction between the NOS3 Gene and Obesity as a Determinant of Risk of Type 2 Diabetes: The Atherosclerosis Risk in Communities Study

Boerwinkle 0 Dana C. Crawford, Vanderbilt University, United States of America 0 1 Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston , Houston , Texas

A genetic association study of activated partial thromboplastin time in European Americans and African Americans: the ARIC Study

Reduced activated partial thromboplastin time (aPTT) is a risk marker for incident and recurrent venous thromboembolism (VTE). Genetic factors influencing aPTT are not well understood, especially in populations of non-European ancestry. The present study aimed to identify aPTT-related gene variants in both European Americans (EAs) and African Americans (AAs). We conducted a...

Gene-Specific Function Prediction for Non-Synonymous Mutations in Monogenic Diabetes Genes

The rapid progress of genomic technologies has been providing new opportunities to address the need of maturity-onset diabetes of the young (MODY) molecular diagnosis. However, whether a new mutation causes MODY can be questionable. A number of in silico methods have been developed to predict functional effects of rare human mutations. The purpose of this study is to compare the...