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Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases
Gad Abraham1,2, Loes Rutten-Jacobs3, Michael Inouye1,2,4,5,6,7,8,9
1Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia (G.A., M.I.).
Insights
Polygenic risk scores, using common genetic variants, show promise for improving cardiovascular disease (CVD) and stroke risk prediction beyond traditional methods. This approach could enhance early disease prevention strategies.
Area of Science:
- Genetics and Cardiovascular Medicine
- Genomic Risk Prediction
- Preventive Cardiology
Background:
- Cardiovascular disease (CVD) and stroke prediction are crucial for prevention.
- Clinical risk scores use known factors, but genetics plays a significant role.
- Previous genetic approaches focused on rare, high-impact mutations.
Purpose of the Study:
- To review the current status of polygenic risk scores (PRS) for CVD and stroke.
- To explore the potential of PRS in improving CVD risk prediction.
- To inform future stroke PRS research using insights from other CVDs.
Main Methods:
- Review of current literature on polygenic risk scores for cardiovascular disease and stroke.
- Analysis of the role of polygenic variation in disease risk.
- Examination of findings from coronary artery disease PRS studies.
Main Results:
- Polygenic variation, the cumulative effect of many common genetic variants, is increasingly recognized for its role in CVD.
- Powerful polygenic risk scores for CVD have been developed.
- Lessons from coronary artery disease PRS are applicable to stroke risk prediction.
Conclusions:
- Polygenic risk scores represent a significant advancement in understanding and predicting CVD and stroke risk.
- PRS have the potential to enhance early risk stratification and preventive strategies.
- Further research, informed by existing CVD PRS, is needed for stroke prediction.
Abstract:
Early prediction of risk of cardiovascular disease (CVD), including stroke, is a cornerstone of disease prevention. Clinical risk scores have been widely used for predicting CVD risk from known risk factors. Most CVDs have a substantial genetic component, which also has been confirmed for stroke in recent gene discovery efforts. However, the role of genetics in prediction of risk of CVD, including stroke, has been limited to testing for highly penetrant monogenic disorders. In contrast, the importance of polygenic variation, the aggregated effect of many common genetic variants across the genome with individually small effects, has become more apparent in the last 5 to 10 years, and powerful polygenic risk scores for CVD have been developed. Here we review the current state of the field of polygenic risk scores for CVD including stroke, and their potential to improve CVD risk prediction. We present findings and lessons from diseases such as coronary artery disease as these will likely be useful to inform future research in stroke polygenic risk prediction.
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