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

Research output: Contribution to journal › Scientific review › peer-review

35 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	American English
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 - 17 Oct 2019

Keywords

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

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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, Roseann E. ; Kuchenbaecker, Karoline ; Walters, Raymond K. ; Chen, Chia Yen ; Popejoy, Alice B. ; Periyasamy, Sathish ; Lam, Max ; Iyegbe, Conrad ; Strawbridge, Rona J. ; Brick, Leslie ; Carey, Caitlin E. ; Martin, Alicia R. ; Meyers, Jacquelyn L. ; Su, Jinni ; Chen, Junfang ; Edwards, Alexis C. ; Kalungi, Allan ; Koen, Nastassja ; Majara, Lerato ; Schwarz, Emanuel ; Smoller, Jordan W. ; Stahl, Eli A. ; Sullivan, Patrick F. ; Vassos, Evangelos ; Mowry, Bryan ; Prieto, Miguel L. ; Cuellar-Barboza, Alfredo ; Bigdeli, Tim B. ; Edenberg, Howard J. ; Huang, Hailiang ; Duncan, Laramie E. / Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. In: Cell. 2019 ; Vol. 179, No. 3. pp. 589-603.

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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.",

keywords = "admixed populations, ancestry, complex disease, cross-ancestry, diversity, GWAS, population genetics, psychiatry, trans-ancestry, trans-ethnic, admixed populations, ancestry, complex disease, cross-ancestry, diversity, GWAS, population genetics, psychiatry, trans-ancestry, trans-ethnic",

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

year = "2019",

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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

Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. / Peterson, Roseann E.; Kuchenbaecker, Karoline; Walters, Raymond K.; Chen, Chia Yen; Popejoy, Alice B.; Periyasamy, Sathish; Lam, Max; Iyegbe, Conrad; Strawbridge, Rona J.; Brick, Leslie; Carey, Caitlin E.; Martin, Alicia R.; Meyers, Jacquelyn L.; Su, Jinni; Chen, Junfang; Edwards, Alexis C.; Kalungi, Allan; Koen, Nastassja; Majara, Lerato; Schwarz, Emanuel; Smoller, Jordan W.; Stahl, Eli A.; Sullivan, Patrick F.; Vassos, Evangelos; Mowry, Bryan; Prieto, Miguel L.; Cuellar-Barboza, Alfredo; Bigdeli, Tim B.; Edenberg, Howard J.; Huang, Hailiang; Duncan, Laramie E.

In: Cell, Vol. 179, No. 3, 17.10.2019, p. 589-603.

Research output: Contribution to journal › Scientific review › peer-review

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AU - Peterson, Roseann E.

AU - Kuchenbaecker, Karoline

AU - Walters, Raymond K.

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

AU - Chen, Junfang

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.

PY - 2019/10/17

Y1 - 2019/10/17

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AB - 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.

KW - admixed populations

KW - ancestry

KW - complex disease

KW - cross-ancestry

KW - diversity

KW - GWAS

KW - population genetics

KW - psychiatry

KW - trans-ancestry

KW - trans-ethnic

KW - admixed populations

KW - ancestry

KW - complex disease

KW - cross-ancestry

KW - diversity

KW - GWAS

KW - population genetics

KW - psychiatry

KW - trans-ancestry

KW - trans-ethnic

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