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. 2022 Jan 4;327(1):75-76.
doi: 10.1001/jama.2021.20356.

Phenome-Wide Association Studies

Lisa Bastarache  1 , Joshua C Denny  2   3 , Dan M Roden  4
Affiliations

Phenome-Wide Association Studies

Lisa Bastarache et al. JAMA. .

Abstract

Genome-wide association studies (GWAS) have made clear that single-nucleotide variants (SNVs) that occur at multiple locations across the genome can be associated with a specific condition or trait, also known as a phenotype. Phenome-wide association studies (PheWAS) invert the idea of a GWAS by searching for phenotypes associated with specific SNVs across the range of thousands of human phenotypes, or the “phenome” (Figure). Analogous to GWAS, PheWAS have shown that specific genetic variations may be associated with multiple conditions and traits.

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Figures

Figure.
Figure.. Genome-Wide Association Study (GWAS) Compared With Phenome-Wide Association Study (PheWAS)
A GWAS (top) contrasted with a PheWAS (bottom). A GWAS starts with families or populations in which individuals have been assigned affected or unaffected status for a disease or other trait, such as a complication of a disease or an adverse outcome during drug treatment, and searches for associated genetic variants. A PheWAS starts with a genetic variant and searches across a set of curated human phenotypes (the “phenome”) to identify associated phenotypes. The “input function” for the PheWAS can be a single genetic variant or sets of variants or other traits.
See this image and copyright information in PMC

References

    1. Denny JC, Ritchie MD, Basford MA, et al. PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations. Bioinformatics. 2010;26(9):1205–1210. - PMC - PubMed
    1. Denny JC, Bastarache L, Ritchie MD, et al. Systematic comparison of phenome-wide association study of electronic medical record data and genome-wide association study data. Nat Biotechnol. 2013;31(12):1102–1110. - PMC - PubMed
    1. Bush WS, Oetjens MT, Crawford DC. Unravelling the human genome-phenome relationship using phenome-wide association studies. Nat Rev Genet. 2016;17(3):129–145. doi:10.1038/nrg.2015.36 - DOI - PubMed
    1. Denny JC, Bastarache L, Roden DM. Phenome-wide association studies as a tool to advance precision medicine. Annu Rev Genomics Hum Genet. 2016;17:353–373. - PMC - PubMed
    1. Diogo D, Tian C, Franklin CS, et al. Phenome-wide association studies across large population cohorts support drug target validation. Nat Commun. 2018;9(1):4285. - PMC - PubMed

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