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Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.

TitlePhenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.
Publication TypeJournal Article
Year of Publication2013
AuthorsPendergrass SA, Brown-Gentry K, Dudek S, Frase A, Torstenson ES, Goodloe R, Ambite JLuis, Avery CL, Buyske S, Bůžková P, Deelman E, Fesinmeyer MD, Haiman CA, Heiss G, Hindorff LA, Hsu C-N, Jackson RD, Kooperberg C, Le Marchand L, Lin Y, Matise TC, Monroe KR, Moreland L, Park SL, Reiner A, Wallace R, Wilkens LR, Crawford DC
Secondary AuthorsRitchie MD
JournalPLoS Genet
Volume9
Issue1
Paginatione1003087
Date Published2013
ISSN1553-7404
KeywordsCalcium, Coronary Artery Disease, Cyclin-Dependent Kinase Inhibitor p16, Ethnic Groups, Gene Regulatory Networks, Genetic Association Studies, Genetic Pleiotropy, Genetic Predisposition to Disease, Genome-Wide Association Study, Genomics, Hemoglobins, Humans, Hypertension, N-Acetylgalactosaminyltransferases, Phenotype, Polymorphism, Single Nucleotide
Abstract

Using a phenome-wide association study (PheWAS) approach, we comprehensively tested genetic variants for association with phenotypes available for 70,061 study participants in the Population Architecture using Genomics and Epidemiology (PAGE) network. Our aim was to better characterize the genetic architecture of complex traits and identify novel pleiotropic relationships. This PheWAS drew on five population-based studies representing four major racial/ethnic groups (European Americans (EA), African Americans (AA), Hispanics/Mexican-Americans, and Asian/Pacific Islanders) in PAGE, each site with measurements for multiple traits, associated laboratory measures, and intermediate biomarkers. A total of 83 single nucleotide polymorphisms (SNPs) identified by genome-wide association studies (GWAS) were genotyped across two or more PAGE study sites. Comprehensive tests of association, stratified by race/ethnicity, were performed, encompassing 4,706 phenotypes mapped to 105 phenotype-classes, and association results were compared across study sites. A total of 111 PheWAS results had significant associations for two or more PAGE study sites with consistent direction of effect with a significance threshold of p

DOI10.1371/journal.pgen.1003087
Alternate JournalPLoS Genet
PubMed ID23382687
PubMed Central IDPMC3561060
Grant ListR00 HL098458 / HL / NHLBI NIH HHS / United States
N01-HV-48195 / HV / NHLBI NIH HHS / United States
U01 HG004790 / HG / NHGRI NIH HHS / United States
U01HG004803 / HG / NHGRI NIH HHS / United States
U01HG004802 / HG / NHGRI NIH HHS / United States
U01HG004798-01 / HG / NHGRI NIH HHS / United States
U01HG004798 / HG / NHGRI NIH HHS / United States
U01HG004801 / HG / NHGRI NIH HHS / United States
U01HG004790 / HG / NHGRI NIH HHS / United States
P30 CA071789 / CA / NCI NIH HHS / United States