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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.
JACC. Asia
|July 7, 2026
Summary
Polygenic risk scores (PRS) show promise for predicting atherosclerotic cardiovascular disease (ASCVD) risk in East Asians. Further research and tailored strategies are needed for effective clinical use in diverse populations.
Area of Science:
- Genetics and Cardiovascular Medicine
- Population Health
- Bioinformatics
Background:
- Genetic predisposition significantly impacts atherosclerotic cardiovascular disease (ASCVD) risk.
- Polygenic risk scores (PRS) are effective in European populations but underrepresented in East Asian cohorts.
- A gap exists in PRS development, validation, and clinical application guidance for East Asian populations.
Purpose of the Study:
- To review current evidence on PRS for coronary artery disease and ischemic stroke in East Asians.
- To explore cross-ancestry integration strategies and methodological considerations for enhancing PRS accuracy.
- To highlight the clinical utility and translation strategies for ASCVD PRS in East Asian routine care.
Main Methods:
- Systematic literature review of PRS studies in East Asian populations.
- Analysis of cross-ancestry PRS integration techniques.
- Evaluation of clinical utility and real-world implementation data.
Main Results:
- Accumulating evidence supports PRS utility for ASCVD subtypes in East Asians.
- Cross-ancestry strategies and methodological refinements can improve predictive accuracy.
- Real-world evaluations demonstrate potential for primary and secondary prevention.
Conclusions:
- ASCVD PRS hold significant potential for East Asian populations.
- Tailored strategies are crucial for accurate PRS development and clinical translation.
- Initiatives promoting PRS application across diverse ancestries are essential for equitable cardiovascular care.
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