多基因风险评分在预测冠状动脉疾病的症状患者. 一个验证研究
Iida Kujala1, Jagadish Vangipurapu2, Teemu Maaniitty1,3
1Turku PET Centre, Turku University Hospital and University of Turku.
Journal of atherosclerosis and thrombosis
|February 25, 2024
概括
多基因风险评分 (PRSs) 在加上临床风险因素时,并没有显著改善冠状动脉疾病 (CAD) 的预测. 目前的PRS还不适合在CAD风险评估中进行常规临床使用.
科学领域:
- 心血管医学 心血管医学
- 遗传学 是一个遗传学.
- 医学诊断 医学诊断 医学诊断
背景情况:
- 临床风险评分指导冠状动脉疾病 (CAD) 测试和治疗的决策.
- 多基因风险评分 (PRS) 显示了增强CAD预测的潜力,但需要在不同的临床群体中进行验证.
- 准确的表型定型对于评估PRSs的临床实用性至关重要.
研究的目的:
- 评估三个领先的PRS对冠状动脉样硬化和阻塞性CAD的预测能力.
- 将基于PRS的遗传模型与临床数据模型的性能进行比较.
- 确定PRS是否比现有的风险评估工具提供了临床上显著的改进.
主要方法:
- 研究包括943名症状患者,怀疑患有CAD,其表型以成像为特征.
- 产生以前发表的全基因组PRSs.
- 仅使用临床数据的预测模型与联合临床数据和PRSs进行了比较.
主要成果:
- 这三种PRS都显著预测了冠状动脉样硬化和阻塞性CAD.
- 将临床数据与PRS相结合的模型显示,接收器运行特征曲线 (AUROC) 下的面积在0.778和0.805之间,略高于仅临床模型 (AUROC 0.769).
- 只有一个PRS (PRS2) 显示了统计学上显著的改善 (p=0.04),但所有PRS的整体诊断能力很弱.
结论:
- 将PRS添加到传统的风险因素中没有产生对冠状动脉样硬化或阻塞性CAD的预测准确性的临床显著改善.
- 目前的PRS没有得到充分的验证,也没有足够的影响力,无法在CAD管理中进行常规的临床实施.
- 需要进一步的研究来完善PRS,以便在预测CAD时有效的临床应用.
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