Analysis of polygenic risk score usage and performance in diverse human populations.

ABSTRACT: A historical tendency to use European ancestry samples hinders medical genetics research, including the use of polygenic scores, which are individual-level metrics of genetic risk. We analyze the first decade of polygenic scoring studies (2008-2017, inclusive), and find that 67% of studies included exclusively European ancestry participants and another 19% included only East Asian ancestry participants. Only 3.8% of studies were among cohorts of African, Hispanic, or Indigenous peoples. We find that predictive performance of European ancestry-derived polygenic scores is lower in non-European ancestry samples (e.g. African ancestry samples: t = -5.97, df = 24, p = 3.7 × 10^-6), and we demonstrate the effects of methodological choices in polygenic score distributions for worldwide

SUBMITTER: Duncan L 

PROVIDER: S-EPMC6658471 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature