Portable polygenic risk

Most genome-wide association studies (GWASs) have been performed on individuals of European descent. This imbalance has led to questions regarding how useful the findings of such studies, such as a polygenic risk score (PRS), are for individuals from other populations. Amariuta et al. examined 707 cell type–specific epigenetic regulatory annotations that had been identified in 111 GWASs investigating polygenic diseases and traits at transcription factor–binding sites in individuals of European and East Asian origin. Their method allowed them to prioritize those variants that affect gene regulation and improve transancestry PRS. Although population-specific causal effect sizes could not be determined, the results of this study indicate that information regarding functional genetic variation associated with disease and gene regulation is transferable across human populations.

Nat. Genet. 52, 1346 (2020).

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