Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.
Risk Prediction Using Polygenic Risk Scores for Prevention of Stroke and Other Cardiovascular Diseases.
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DOI：
10.1161/strokeaha.120.032619
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发表时间：
2021-08
期刊：
影响因子：
8.3
通讯作者：
Inouye M
中科院分区：
文献类型：
--
作者：
Abraham G;Rutten-Jacobs L;Inouye M
早期预测包括中风在内的心血管疾病（CVD）风险是疾病预防的基石。临床风险评分已被广泛用于从已知风险因素预测CVD风险。大多数心血管疾病都有相当大的遗传成分，这在最近的基因发现工作中也得到了证实。然而，遗传学在预测包括中风在内的CVD风险中的作用仅限于检测高渗透性单基因疾病。相比之下，多基因变异的重要性，即基因组中许多常见遗传变异的聚集效应，其个体效应较小，在过去5 - 10年中变得更加明显，并且已经开发出了强大的CVD多基因风险评分。在这里，我们回顾了包括中风在内的CVD多基因风险评分领域的现状，以及它们改善CVD风险预测的潜力。我们目前的研究结果和经验教训的疾病，如冠状动脉疾病，因为这些可能是有用的，为未来的研究，中风多基因风险预测。
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 5–10 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.