ArticlePLoS genetics2013
Phenome-wide association study (PheWAS) for detection of pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network.
Article in PLoS genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 110 papers, 2 of them syntheses that pooled it.
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Who cites it
110 citing papers in PubMed, 2 syntheses or guidelines pooled it, 190 citations in OpenAlex.
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- Meta-Analysis of Genome-Wide Association Studies for Abdominal Aortic Aneurysm Identifies Four New Disease-Specific Risk Loci.Circulation research · 2017Pooled it
- Multiphenotype association study of patients randomized to initiate antiretroviral regimens in AIDS Clinical Trials Group protocol A5202.Pharmacogenetics and genomics · 2017Trial
- Genome-wide association study reveals candidate genes for body size and reproductive traits in Hu sheep.Animal bioscience · 2026Article
- The interplay of sex and genotype in disease associations: a comprehensive network analysis in the UK Biobank.Human genomics · 2025Article
- Using electronic health records for clinical pharmacology research: Challenges and considerations.Clinical and translational science · 2024Review
- A novel method for multiple phenotype association studies based on genotype and phenotype network.PLoS genetics · 2024Article
- Uncovering genetic associations in the human diseasome using an endophenotype-augmented disease network.Bioinformatics (Oxford, England) · 2024Article
- Phenome-wide association network demonstrates close connection with individual disease trajectories from the HUNT study.PloS one · 2024Article
- Comprehensive analysis of genetic associations and single-cell expression profiles reveals potential links between migraine and multiple diseases: a phenome-wide association study.Frontiers in neurology · 2024Article
- Phenome-wide association study and precision medicine of cardiovascular diseases in the post-COVID-19 era.Acta pharmacologica Sinica · 2023Review
- Discovery of Drug-Responsive Phenomic Alteration-Related Driver Genes in the Treatment of Coronary Heart Disease.Pharmacogenomics and personalized medicine · 2023Article
- Phenomics as an approach to Comparative Developmental Physiology.Frontiers in physiology · 2023Article
- Phenome-Wide Association Study ofKidney international reports · 2022Article
- Large-scale genomic analyses reveal insights into pleiotropy across circulatory system diseases and nervous system disorders.Nature communications · 2022Article
- Deciphering Pleiotropic Signatures of Regulatory SNPs inInternational journal of molecular sciences · 2022Article
- Genetic variation ineLife · 2022Article
- Maturation and application of phenome-wide association studies.Trends in genetics : TIG · 2022Review
- Whole Exome Sequencing in Healthy Individuals of Extreme Constitution Types Reveals Differential Disease Risk: A Novel Approach towards Predictive Medicine.Journal of personalized medicine · 2022Article
- Article
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Authors and funding
29 authors at 14 institutions in 1 country.
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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<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.
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