Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations

Roseann E. Peterson, Karoline Kuchenbaecker, Raymond K. Walters, Chia Yen Chen, Alice B. Popejoy, Sathish Periyasamy, Max Lam, Conrad Iyegbe, Rona J. Strawbridge, Leslie Brick, Caitlin E. Carey, Alicia R. Martin, Jacquelyn L. Meyers, Jinni Su, Junfang Chen, Alexis C. Edwards, Allan Kalungi, Nastassja Koen, Lerato Majara, Emanuel SchwarzJordan W. Smoller, Eli A. Stahl, Patrick F. Sullivan, Evangelos Vassos, Bryan Mowry, Miguel L. Prieto, Alfredo Cuellar-Barboza, Tim B. Bigdeli, Howard J. Edenberg, Hailiang Huang, Laramie E. Duncan

Research output: Contribution to journalReview article

9 Scopus citations

Abstract

Genome-wide association studies (GWASs) have focused primarily on populations of European descent, but it is essential that diverse populations become better represented. Increasing diversity among study participants will advance our understanding of genetic architecture in all populations and ensure that genetic research is broadly applicable. To facilitate and promote research in multi-ancestry and admixed cohorts, we outline key methodological considerations and highlight opportunities, challenges, solutions, and areas in need of development. Despite the perception that analyzing genetic data from diverse populations is difficult, it is scientifically and ethically imperative, and there is an expanding analytical toolbox to do it well.

Original languageEnglish (US)
Pages (from-to)589-603
Number of pages15
JournalCell
Volume179
Issue number3
DOIs
StatePublished - Oct 17 2019

Keywords

  • GWAS
  • admixed populations
  • ancestry
  • complex disease
  • cross-ancestry
  • diversity
  • population genetics
  • psychiatry
  • trans-ancestry
  • trans-ethnic

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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    Peterson, R. E., Kuchenbaecker, K., Walters, R. K., Chen, C. Y., Popejoy, A. B., Periyasamy, S., Lam, M., Iyegbe, C., Strawbridge, R. J., Brick, L., Carey, C. E., Martin, A. R., Meyers, J. L., Su, J., Chen, J., Edwards, A. C., Kalungi, A., Koen, N., Majara, L., ... Duncan, L. E. (2019). Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. Cell, 179(3), 589-603. https://doi.org/10.1016/j.cell.2019.08.051