作者
Nina Mars, Sini Kerminen, Yen-Chen A Feng, Masahiro Kanai, Kristi Läll, Laurent F Thomas, Anne Heidi Skogholt, Pietro della Briotta Parolo, Benjamin M Neale, Jordan W Smoller, Maiken E Gabrielsen, Kristian Hveem, Reedik Mägi, Koichi Matsuda, Yukinori Okada, Matti Pirinen, Aarno Palotie, Andrea Ganna, Alicia R Martin, Samuli Ripatti
发表日期
2022/4/13
期刊
Cell Genomics
卷号
2
期号
4
出版商
Elsevier
简介
Polygenic risk scores (PRS) measure genetic disease susceptibility by combining risk effects across the genome. For coronary artery disease (CAD), type 2 diabetes (T2D), and breast and prostate cancer, we performed cross-ancestry evaluation of genome-wide PRSs in six biobanks in Europe, the United States, and Asia. We studied transferability of these highly polygenic, genome-wide PRSs across global ancestries, within European populations with different health-care systems, and local population substructures in a population isolate. All four PRSs had similar accuracy across European and Asian populations, with poorer transferability in the smaller group of individuals of African ancestry. The PRSs had highly similar effect sizes in different populations of European ancestry, and in early- and late-settlement regions with different recent population bottlenecks in Finland. Comparing genome-wide PRSs to …
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