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 Schwarz; Jordan 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

doi:10.1016/j.cell.2019.08.051

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

Psychology

Research output: Contribution to journal › Review article › peer-review

329 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 language	English (US)
Pages (from-to)	589-603
Number of pages	15
Journal	Cell
Volume	179
Issue number	3
DOIs	https://doi.org/10.1016/j.cell.2019.08.051
State	Published - Oct 17 2019

Keywords

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

ASJC Scopus subject areas

General Biochemistry, Genetics and Molecular Biology

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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

Peterson, RE, Kuchenbaecker, K, Walters, RK, Chen, CY, Popejoy, AB, Periyasamy, S, Lam, M, Iyegbe, C, Strawbridge, RJ, Brick, L, Carey, CE, Martin, AR, Meyers, JL, Su, J, Chen, J, Edwards, AC, Kalungi, A, Koen, N, Majara, L, Schwarz, E, Smoller, JW, Stahl, EA, Sullivan, PF, Vassos, E, Mowry, B, Prieto, ML, Cuellar-Barboza, A, Bigdeli, TB, Edenberg, HJ, Huang, H & Duncan, LE 2019, 'Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations', Cell, vol. 179, no. 3, pp. 589-603. https://doi.org/10.1016/j.cell.2019.08.051

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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.",

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AU - Chen, Chia Yen

AU - Popejoy, Alice B.

AU - Periyasamy, Sathish

AU - Lam, Max

AU - Iyegbe, Conrad

AU - Strawbridge, Rona J.

AU - Brick, Leslie

AU - Carey, Caitlin E.

AU - Martin, Alicia R.

AU - Meyers, Jacquelyn L.

AU - Su, Jinni

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AU - Edwards, Alexis C.

AU - Kalungi, Allan

AU - Koen, Nastassja

AU - Majara, Lerato

AU - Schwarz, Emanuel

AU - Smoller, Jordan W.

AU - Stahl, Eli A.

AU - Sullivan, Patrick F.

AU - Vassos, Evangelos

AU - Mowry, Bryan

AU - Prieto, Miguel L.

AU - Cuellar-Barboza, Alfredo

AU - Bigdeli, Tim B.

AU - Edenberg, Howard J.

AU - Huang, Hailiang

AU - Duncan, Laramie E.

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

Abstract

Keywords

ASJC Scopus subject areas

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