The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network
Open accessAbstract
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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Cites
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Cited by
Detection and interpretation of shared genetic influences on 42 human traits
Pickrell, J. K., Berisa, T., Liu, J. Z., Ségurel, L., Tung, J. Y., & Hinds, D. A. (2016) · Nature Genetics · doi:10.1038/ng.3570 · Cited by 1,151
Pleiotropy in complex traits: challenges and strategies
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Self-citationR PheWAS: data analysis and plotting tools for phenome-wide association studies in the R environment
Carroll, R. J., Bastarache, L., & Denny, J. C. (2014) · Bioinformatics · doi:10.1093/bioinformatics/btu197 · Cited by 450
Network biology concepts in complex disease comorbidities
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Metadata
- Authors
- Pendergrass, S. A., Brown-Gentry, K., Dudek, S., Frase, A., Torstenson, E. S., Goodloe, R., Ambite, J. L., Avery, C. L., Buyske, S., Bůžková, P., Deelman, E., Fesinmeyer, M. D., Haiman, C. A., Heiss, G., Hindorff, L. A., Hsu, C.-N., Jackson, R. D., Kooperberg, C., Le Marchand, L., Lin, Y., Matise, T. C., Monroe, K. R., Moreland, L., Park, S. L., Reiner, A., Wallace, R., Wilkens, L. R., Crawford, D. C., & Ritchie, M. D.
- Venue
- PLoS Genetics
- Publisher
- Public Library of Science (PLoS)
- Published
- 2013-01-31
- Volume
- 9
- Issue
- 1
- Pages
- e1003087
- ISSN
- 1553-7390 (ISSN-L)
- 1553-7404
- OpenAlex
- W2110549414
- Cited by
- 178
- References
- 11
- FWCI
- 14.16
- Type
- journal article
- Language
- en
- Open access
- gold
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- Pendergrass, S. A., Brown-Gentry, K., Dudek, S., Frase, A., Torstenson, E. S., Goodloe, R., Ambite, J. L., Avery, C. L., Buyske, S., Bůžková, P., Deelman, E., Fesinmeyer, M. D., Haiman, C. A., Heiss, G., Hindorff, L. A., Hsu, C.-N., Jackson, R. D., Kooperberg, C., Le Marchand, L., . . . Ritchie, M. D. (2013). Phenome-Wide Association Study (PheWAS) for Detection of Pleiotropy within the Population Architecture using Genomics and Epidemiology (PAGE) Network. PLoS Genetics. https://doi.org/10.1371/journal.pgen.1003087
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
