冠状动脉化遗传风险评分及其对冠状动脉疾病的预测能力
Pashupati P Mishra1,2,3, Binisha H Mishra1,2,3, Leo-Pekka Lyytikäinen1,2,3
1Department of Clinical Chemistry, Faculty of Medicine and Health Technology, Tampere University, Tampere, Finland.
冠状动脉化 (CAC) 的新遗传风险评分 (GRS) 显示了冠状动脉疾病 (CAD) 的显著预测能力. 这种CAC GRS比传统的风险因素提供了附加值,并与现有得分相结合,改善了CAD预测.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组预测模型
- 生物标志物发现发现
背景情况:
- 对于冠状动脉疾病 (CAD) 现有的遗传风险评分 (GRS) 具有适度的预测价值.
- 影响CAD的遗传成分可能在中间表型中发现,例如冠状动脉化 (CAC).
研究的目的:
- 调查CAC特定的GRS对CAD的预测能力.
- 评估CAC GRS对传统心血管疾病 (CVD) 风险因素和综合性CAD GRS (metaGRS) 的预测附加值.
主要方法:
- 利用来自大型多祖先全基因组关联研究 (GWAS) 的总结数据对CAC的元分析.
- 在三个欧洲队列中调查了相关性:路德维希沙芬风险和心血管健康 (LURIC),坦佩雷血管研究 (TVS) 和坦佩雷突然死亡研究 (TSDS).
- 采用机器学习方法来测试CAC GRS对传统心血管疾病风险因素和metaGRS的预测附加值,使用LURIC数据.
主要成果:
- 在所有三个队列 (LURIC,TVS,TSDS) 中,CAC GRS与CAD有显著的关联.
- CAC GRS显示出与左侧和右侧冠状动脉结的强烈关联.
- 当与metaGRS相结合时,CAC GRS提供了对传统心血管疾病风险因素 (AUC 0.734对0.717,p=0.02) 的CAD的统计学上显著的附加预测价值,并改善了预测.
结论:
- 该CAC GRS作为CAD的新风险标志物.
- 这种GRS提供了超出已确定的心血管疾病风险因素的增量预测价值.
- 纳入CAC GRS可能会提高CAD风险预测模型的准确性.
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