多基因风险评分与发生性冠心病临床风险评分的预测精度
Jonathan D Mosley1,2, Deepak K Gupta1, Jingyi Tan3
1Department of Medicine, Vanderbilt University Medical Center, Nashville, Tennessee.
JAMA
|February 19, 2020
概括
多基因风险评分显示与冠状动脉疾病 (CHD) 相关,但与本研究人群中现有的临床风险方程相比没有改善预测. 需要进一步的研究来确定它们对心脏病查的临床有用性.
科学领域:
- 遗传学和基因组学
- 心血管疾病流行病学
- 预防性心脏病学
背景情况:
- 多基因风险评分 (PRS) 使用数百万个单核酸多态 (SNP) 进行潜在的全民冠心病 (CHD) 查.
- 目前的临床风险方程是评估心血管疾病风险的指导方针.
研究的目的:
- 与当前的临床风险方程相比,评估PRS是否可以提高心脏病预测.
- 在不同的群体中评估验证的PRS的预测准确性.
主要方法:
- 这是一项回顾性队列研究,涉及4847名来自社区动脉样硬化风险研究 (ARIC) 和2390名来自多民族动脉样硬化研究 (MESA) 的成年人.
- 基于国际全基因组关联研究的PRS计算使用6,630,149个SNP.
- 与2013年ACC/AHA组合的队列方程使用歧视,校准和净重新分类改进 (NRI) 进行PRS性能比较.
主要成果:
- 在ARIC和MESA群体中,PRS与10年内心脏病发病率显著相关.
- 将PRS添加到合并的队列方程中没有显著改善任何队列的C统计或风险重新分类 (NRI).
- 在ARIC或MESA群体中,PRS没有显著改善模型校准.
结论:
- 虽然PRS与发生性心脏病相关,但与传统方法相比,它没有显著改善预测能力.
- 研究结果表明,目前PRS可能无法提高该人口群体的冠状动脉疾病风险预测.
- 需要对PRS进行进一步的验证和改进,以便在心血管疾病风险评估中得到更广泛的临床应用.
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