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Improving Polygenic Risk Prediction for Atherosclerotic Cardiovascular Disease in East Asian Populations
Junting He1, Xuxiang Shen1, Minxian Wang2
1Department of Epidemiology, State Key Laboratory of Cardiovascular Disease, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Abstract:
Genetic predisposition contributes substantially to the risk for atherosclerotic cardiovascular disease (ASCVD). Polygenic risk scores (PRS), which quantify this inherited susceptibility, have demonstrated strong predictive performance in European populations, with accumulating evidence supporting their use in clinical practice. However, East Asian populations face a notable gap in PRS development and validation, with limited studies guiding their clinical application. In this state-of-the-art review, the authors summarize current evidence on PRS for coronary artery disease and ischemic stroke, the 2 major subtypes of ASCVD, in East Asian populations. The authors place specific focus on cross-ancestry integration strategies and key methodological considerations to enhance predictive accuracy. Additionally, the authors highlight the clinical utility of ASCVD PRS in primary and secondary prevention and their evaluation in real-world settings and outline strategies for clinical translation into routine care for East Asians. This review underscores the need for initiatives to facilitate the application of PRS across diverse populations.
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