多基因风险评分可以改善边界和中间临床风险的个人对CAD风险的预测
Dariusz Ratman1, Placede Tshiaba1, Michael Levin2
1MyOme Inc, Menlo Park, CA, USA.
NPJ cardiovascular health
|March 3, 2026
概括
将多基因风险评分 (PRS) 与临床数据相结合,可以改善冠状动脉疾病 (CAD) 风险预测,特别是在中等风险人群中. 新的跨血统综合风险评分 (caIRS) 增强了在不同人群中识别高风险患者的能力.
科学领域:
- 心血管医学 心血管医学
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
背景情况:
- 冠状动脉疾病 (CAD) 的临床风险预测模型在准确识别个体方面存在局限性.
- 多基因风险评分 (PRS) 为风险评估提供了遗传组件.
- 整合不同祖先的PRS对于公平的风险预测至关重要.
研究的目的:
- 开发和验证一种新的风险模型,将多祖先的PRS与CAD的临床风险因素相结合.
- 评估这种综合模型的性能,称为跨祖先综合风险评分 (caIRS),在多种人群中,特别是那些处于边界或中间风险的人群中.
主要方法:
- 开发了针对CAD和2型糖尿病PRSs的祖先特定组合模型.
- 结合多个祖先的PRS来创建一个交叉祖先的PRS (caPRS).
- 集成caPRS与聚合队列方程 (PCE) 形成caIRS,用于估计10年CAD风险.
主要成果:
- 与PCE相比,caIRS在四个队列中表现出优异的表现,包括英国生物银行和宾夕法尼亚医学生物银行.
- 对于西班牙裔和南亚人来说,在风险重新分类中观察到显著的改善.
- 对于边缘/中等PCE风险 (5-20%) 的个人,caIRS将7.0%-10.7%重新归类到高风险组,该组的CAD发病率明显较高.
结论:
- CAD caIRS有效地结合了遗传和临床因素,以改善高风险CAD的识别.
- 这种在不同人群中增强的风险预测具有优化治疗策略和临床指导的潜力.
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