Principles and methods for transferring polygenic risk scores across global populations

Linda Kachuri; Nilanjan Chatterjee; Jibril Hirbo; Daniel J. Schaid; Iman Martin; Iftikhar J. Kullo; Eimear E. Kenny; Bogdan Pasaniuc; Paul L. Auer; Matthew P. Conomos; David V. Conti; Yi Ding; Ying Wang; Haoyu Zhang; Yuji Zhang; John S. Witte; Tian Ge

doi:10.1038/s41576-023-00637-2

Principles and methods for transferring polygenic risk scores across global populations

Linda Kachuri, Nilanjan Chatterjee, Jibril Hirbo, Daniel J. Schaid, Iman Martin, Iftikhar J. Kullo, Eimear E. Kenny, Bogdan Pasaniuc, Paul L. Auer, Matthew P. Conomos, David V. Conti, Yi Ding, Ying Wang, Haoyu Zhang, Yuji Zhang, John S. Witte, Tian Ge

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

Abstract

Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.

Original language	English (US)
Pages (from-to)	8-25
Number of pages	18
Journal	Nature Reviews Genetics
Volume	25
Issue number	1
DOIs	https://doi.org/10.1038/s41576-023-00637-2
State	Published - Jan 2024

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

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Kachuri, L., Chatterjee, N., Hirbo, J., Schaid, D. J., Martin, I., Kullo, I. J., Kenny, E. E., Pasaniuc, B., Auer, P. L., Conomos, M. P., Conti, D. V., Ding, Y., Wang, Y., Zhang, H., Zhang, Y., Witte, J. S., & Ge, T. (2024). Principles and methods for transferring polygenic risk scores across global populations. Nature Reviews Genetics, 25(1), 8-25. https://doi.org/10.1038/s41576-023-00637-2

Kachuri, L, Chatterjee, N, Hirbo, J, Schaid, DJ, Martin, I, Kullo, IJ, Kenny, EE, Pasaniuc, B, Auer, PL, Conomos, MP, Conti, DV, Ding, Y, Wang, Y, Zhang, H, Zhang, Y, Witte, JS & Ge, T 2024, 'Principles and methods for transferring polygenic risk scores across global populations', Nature Reviews Genetics, vol. 25, no. 1, pp. 8-25. https://doi.org/10.1038/s41576-023-00637-2

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abstract = "Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries. Developing PRSs that benefit global populations in research and clinical settings provides an opportunity for innovation and is essential for health equity.",

author = "Linda Kachuri and Nilanjan Chatterjee and Jibril Hirbo and Schaid, {Daniel J.} and Iman Martin and Kullo, {Iftikhar J.} and Kenny, {Eimear E.} and Bogdan Pasaniuc and Auer, {Paul L.} and Conomos, {Matthew P.} and Conti, {David V.} and Yi Ding and Ying Wang and Haoyu Zhang and Yuji Zhang and Witte, {John S.} and Tian Ge",

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doi = "10.1038/s41576-023-00637-2",

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AU - Martin, Iman

AU - Kullo, Iftikhar J.

AU - Kenny, Eimear E.

AU - Pasaniuc, Bogdan

AU - Auer, Paul L.

AU - Conomos, Matthew P.

AU - Conti, David V.

AU - Ding, Yi

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AU - Witte, John S.

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Principles and methods for transferring polygenic risk scores across global populations

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