基于多基因风险评分的卒中及其他心血管疾病预防风险预测。
Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.
机构信息
Cambridge Baker Systems Genomics Initiative, Baker Heart and Diabetes Institute, Melbourne, VIC, Australia (G.A., M.I.).
Department of Clinical Pathology, University of Melbourne, Parkville, VIC, Australia (G.A., M.I.).
出版信息
Stroke. 2021 Aug;52(9):2983-2991. doi: 10.1161/STROKEAHA.120.032619. Epub 2021 Aug 17.
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.
早期预测心血管疾病（CVD）的风险，包括中风，是疾病预防的基石。临床风险评分已被广泛用于预测已知风险因素的 CVD 风险。大多数 CVD 都有很大的遗传成分，最近在基因发现工作中也证实了中风也有遗传成分。然而，遗传在 CVD 包括中风风险预测中的作用仅限于检测高外显率的单基因疾病。相比之下，在过去的 5 到 10 年中，多基因变异的重要性，即基因组中许多常见遗传变异的累积效应，其影响很小，变得更加明显，并且已经开发出强大的 CVD 多基因风险评分。在这里，我们回顾了 CVD 包括中风的多基因风险评分领域的现状，以及它们在改善 CVD 风险预测方面的潜力。我们介绍了来自冠状动脉疾病等疾病的研究结果和经验教训，因为这些结果和经验教训可能对中风多基因风险预测的未来研究有用。
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