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Lippincott, Williams & Wilkins, Pharmacogenetics and Genomics, 8(23), p. 383-394, 2013

DOI: 10.1097/fpc.0b013e32833d7b45

Nature Research, Nature Reviews Genetics, 4(11), p. 241-246, 2010

DOI: 10.1038/nrg2751

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Genome-wide association studies in pharmacogenomics

Journal article published in 2010 by Alison A. Motsinger-Reif ORCID, Eric Jorgenson, Mary V. Relling, Deanna L. Kroetz, Richard Weinshilboum, Nancy J. Cox, Dan M. Roden, Ann K. Daly ORCID
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This paper is available in a repository.

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Abstract

OBJECTIVE: As genotyping technology has progressed, genome-wide association studies (GWAS) have matured into efficient and effective tools for mapping genes underlying human phenotypes. METHODS: Recent studies have shown the utility of the GWAS approach for examining pharmacogenomic traits, including drug metabolism, efficacy, and toxicity. RESULTS: Application of GWAS to pharmacogenomic outcomes presents unique challenges and opportunities. CONCLUSION: In the current review, we discuss the potential promises and potential caveats of this approach specifically as it relates to pharmacogenomic studies. Concerns with study design, power and sample size, and analysis are reviewed. We further examine the features of successful pharmacogenomic GWAS, and describe consortia efforts that are likely to expand the reach of pharmacogenomic GWAS in the future.