Assessment of polygenic risk score performance in East Asian populations for ten common diseases.

ABSTRACT: Polygenic risk score (PRS) uses genetic variants to assess disease susceptibility. While PRS performance is well-studied in Europeans, its accuracy in East Asians is less explored. This study evaluated PRSs for ten diseases in the Health Examinees (HEXA) cohort (n = 55,870) in Korea. Single-population PRSs were constructed using PRS-CS, LDpred2, and Lassosum based on East Asian GWAS summary statistics (sample sizes: 51,442-341,204), while cross-population PRSs were developed using PRS-CSx and CT-SLEB by integrating European and East Asian GWAS data. PRS-CS consistently outperformed other single-population methods across key metrics, including the likelihood ratio test (LRT), odds ratio per standard deviation (perSD OR), net reclassification improvement (NRI), and area under the curve (AUC)

SUBMITTER: Jung HU 

PROVIDER: S-EPMC11882803 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature