多祖先多基因风险评分可以改善冠状动脉疾病的风险预测
Aniruddh P Patel1,2,3,4,5, Minxian Wang6, Yunfeng Ruan2,3
1Division of Cardiology, Department of Medicine, Massachusetts General Hospital, Boston, MA, USA.
Nature medicine
|July 6, 2023
概括
一个新的冠状动脉疾病 (CAD) 的多基因评分,GPSMult,改善了跨不同祖先的风险预测. 这种工具可以识别高风险和低风险的个体,帮助对这种常见的心脏病进行早期干预.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组流行病学 基因组流行病学
- 精准医学是一门精准的医学.
背景情况:
- 在症状出现之前识别患冠状动脉疾病 (CAD) 的高风险个体对公共卫生至关重要.
- 已开发出全基因组多基因分数来分层CAD风险,承认其重要的遗传成分.
研究的目的:
- 通过整合广泛的全基因组关联数据,开发和验证改进的CAD多基因分数,命名为GPSMult.
- 评估GPSMult在预测不同祖先群体中流行和发生的CAD方面的表现.
主要方法:
- 开发了GPSMult,使用来自5个祖先的269,000多个CAD病例和1,178,000个控制者的全基因组关联数据,结合了10个CAD风险因素.
- 在英国生物库参与者 (欧洲血统) 中验证了GPSMult,用于流行和发生的CAD.
- 在包括非洲,欧洲,西班牙裔和南亚祖先在内的多民族数据集中进行外部验证的GPSMult.
主要成果:
- 在欧洲祖先的个人中,GPSMult与普遍的CAD (或每SD2.14) 和事件CAD (每SD1.73的HR) 强烈相关.
- 鉴定出20.0%的人口患有CAD风险增加3倍,13.9%的人患有CAD风险降低3倍.
- 与之前的CAD多基因分数相比,在所有测试的祖先中表现出优异的性能和更强的关联.
结论:
- GPSMult代表了对CAD多基因风险预测的重大进展.
- 该分数有效地识别出具有显著升高或降低风险的个体,从而实现更好的风险分层.
- 这些发现支持整合多样化,大规模遗传数据的可概括框架,以加强对CAD和相关特征的多基因风险预测.
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