心血管疾病预防中的精准医学:在美国队列中临床验证多祖先多基因风险评分
Małgorzata Ponikowska1,2, Paolo Di Domenico1, Alessandro Bolli1
1Allelica Inc., San Francisco, CA 94105, USA.
Nutrients
|March 13, 2025
概括
多基因风险评分 (PRS) 有效地预测跨祖先的心血管疾病风险. 整合遗传数据可以完善针对冠状动脉疾病等疾病的个性化预防策略.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 心血管医学 心血管医学
- 精准医学是一门精准的医学.
背景情况:
- 多基因风险评分 (PRS) 汇总了来自编码和非编码区域的共同遗传变异,以预测疾病风险.
- 在心血管医学中,PRS增强了风险分层,超出了预防冠状动脉疾病 (CAD) 的传统因素.
- 这项研究评估了使用我们所有人 (AoU) 全基因组测序数据集 (>225,000名参与者) 的多祖先PRS框架.
研究的目的:
- 评估心血管风险评估的多祖先多基因风险评分 (PRS) 框架的预测性能.
- 评估综合PRS模型在预测冠状动脉疾病 (CAD) 风险的有效性.
- 为了验证PRS在不同人群中的通用性,并完善个性化精准医学方法.
主要方法:
- 开发了PRS用于脂质特征 (LDL-C,HDL-C,甘油三) 和心脏代谢状况 (2型糖尿病,高血压,心房动).
- 构建了两个元PRS:一个风险因子元PRS (脂质和心脏代谢条件) 和一个风险因子+CAD元PRS.
- 对AoU数据集中的每个祖先组单独评估PRS和metaPRS的预测性能,校准和验证.
主要成果:
- 脂质和心脏代谢状况的PRS在祖先之间显示出强大的预测性能.
- 风险因子metaPRS在预测多个祖先的CAD风险方面表现出有效性.
- 将CAD特定的PRS与风险因子metaPRS相结合,显著改善了CAD风险预测,表明传统因素未能完全捕捉到遗传组件.
结论:
- 基于PRS的风险分层提供了一种可靠的,包括祖先的方法,用于个性化预防心血管疾病.
- 这些遗传框架使得有针对性的干预措施成为可能,包括药理疗法和生活方式改变.
- 整合基因组数据完善了跨不同人群的风险预测,为常见疾病推进了精准医学.
关键词:
在这里,我们可以看到CAD,CAD,CAD.在CAD PRS中使用.在PRS中使用PRS.祖先特定的多基因风险评分.冠状动脉疾病是一种冠状动脉疾病.冠状动脉疾病多基因风险评分多基因风险评分多基因风险评分.精确的心血管护理服务更多相关视频
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