Inclusion of variants discovered from diverse populations improves polygenic risk score transferability.

ABSTRACT: The majority of polygenic risk scores (PRSs) have been developed and optimized in individuals of European ancestry and may have limited generalizability across other ancestral populations. Understanding aspects of PRSs that contribute to this issue and determining solutions is complicated by disease-specific genetic architecture and limited knowledge of sharing of causal variants and effect sizes across populations. Motivated by these challenges, we undertook a simulation study to assess the relationship between ancestry and the potential bias in PRSs developed in European ancestry populations. Our simulations show that the magnitude of this bias increases with increasing divergence from European ancestry, and this is attributed to population differences in linkage disequilibrium and allel

SUBMITTER: Cavazos TB 

PROVIDER: S-EPMC7869832 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature