Center for Systems Genomics, Department of Biochemistry and Molecular Biology, The Pennsylvania State University, Eberly College of Science, The Huck Institutes of the Life Sciences, University Park, Pennsylvania, United States of America.
PLoS Genet. 2013;9(1):e1003087. doi: 10.1371/journal.pgen.1003087. Epub 2013 Jan 31.
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<0.01 for the same racial/ethnic group, SNP, and phenotype-class. Among results identified for SNPs previously associated with phenotypes such as lipid traits, type 2 diabetes, and body mass index, 52 replicated previously published genotype-phenotype associations, 26 represented phenotypes closely related to previously known genotype-phenotype associations, and 33 represented potentially novel genotype-phenotype associations with pleiotropic effects. The majority of the potentially novel results were for single PheWAS phenotype-classes, for example, for CDKN2A/B rs1333049 (previously associated with type 2 diabetes in EA) a PheWAS association was identified for hemoglobin levels in AA. Of note, however, GALNT2 rs2144300 (previously associated with high-density lipoprotein cholesterol levels in EA) had multiple potentially novel PheWAS associations, with hypertension related phenotypes in AA and with serum calcium levels and coronary artery disease phenotypes in EA. PheWAS identifies associations for hypothesis generation and exploration of the genetic architecture of complex traits.
我们采用表型全基因组关联研究(PheWAS)方法,全面检测了 70061 名 PAGE 网络研究参与者中可获得的表型的遗传变异与表型的关联。我们的目的是更好地描述复杂性状的遗传结构,并确定新的多效关系。这项 PheWAS 借鉴了 PAGE 中五个基于人群的研究,代表了四个主要的种族/民族群体(欧洲裔美国人(EA)、非裔美国人(AA)、西班牙裔/墨西哥裔美国人以及亚裔/太平洋岛民),每个研究点都有多个性状、相关实验室测量值和中间生物标志物的测量值。通过全基因组关联研究(GWAS)确定的 83 个单核苷酸多态性(SNP)在两个或更多的 PAGE 研究点进行了基因分型。按种族/民族进行了综合关联测试,涵盖了 4706 个映射到 105 个表型类别的表型,并且比较了研究点之间的关联结果。共有 111 个 PheWAS 结果在两个或更多 PAGE 研究点具有显著关联,并且具有相同种族/民族、SNP 和表型类别的一致效应方向,显著性阈值为 p<0.01。在之前与脂质性状、2 型糖尿病和体重指数等表型相关的 SNP 中,有 52 个结果复制了之前发表的基因型-表型关联,26 个结果代表与之前已知的基因型-表型关联密切相关的表型,33 个结果代表具有多效性影响的潜在新的基因型-表型关联。大多数潜在的新结果是针对单一的 PheWAS 表型类别的,例如,在 EA 中与 2 型糖尿病相关的 CDKN2A/B rs1333049,在 AA 中检测到与血红蛋白水平相关的 PheWAS 关联。然而,值得注意的是,GALNT2 rs2144300(之前与 EA 中的高密度脂蛋白胆固醇水平相关)有多个潜在的新 PheWAS 关联,与 AA 中的高血压相关表型以及 EA 中的血清钙水平和冠状动脉疾病表型相关。PheWAS 可用于生成假设并探索复杂性状的遗传结构。