Genome-wide association studies in pharmacogenomics: Successes and lessons

Alison A. Motsinger-Reif, Eric Jorgenson, Mary V. Relling, Deanna L. Kroetz, Richard Weinshilboum, Nancy J. Cox, Dan M. Roden

Research output: Contribution to journalReview articlepeer-review

84 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)383-394
Number of pages12
JournalPharmacogenetics and genomics
Issue number8
StatePublished - Aug 2013


  • drug metabolism
  • drug response
  • genome-wide association
  • genome-wide association studies
  • pharmacogenetic
  • pharmacogenomic
  • toxicity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Molecular Medicine
  • Molecular Biology
  • Pharmacology, Toxicology and Pharmaceutics(all)


Dive into the research topics of 'Genome-wide association studies in pharmacogenomics: Successes and lessons'. Together they form a unique fingerprint.

Cite this