多基因风险和冠状动脉疾病的严重程度
Alborz Sherafati1, Kristjan Norland1, Mohammadreza Naderian1
1Department of Cardiovascular Medicine (A.S., K.N., M.N., I.J.K.).
Circulation. Genomic and precision medicine
|August 8, 2024
概括
对冠心病 (CHD) 的遗传倾向与冠心病 (CAD) 严重程度有关. CAD严重程度显著调解了遗传风险和心脏病发作之间的关联,揭示了强烈的遗传重叠.
科学领域:
- 心血管遗传学 心血管遗传学
- 基因组医学是基因组医学.
- 翻译心脏病学 翻译心脏病学
背景情况:
- 冠状动脉样硬化负担和冠状动脉心脏病不良事件是相关的表型.
- 这些心血管表型可能具有共同的遗传病因.
研究的目的:
- 调查冠状动脉疾病 (PRS_CHD) 的多基因风险得分与冠状动脉疾病 (CAD) 严重程度的关联.
- 评估PRS_CHD和家族性高胆固醇血症 (FH) 变体对CAD严重性的联合影响.
- 探索CAD严重程度在PRS_CHD和主要心血管不良事件之间关系中的调解作用.
主要方法:
- 对6021名冠状动脉血管学,基因型和外体序列测序数据的患者进行分析.
- 对冠心病 (PRS_CHD) 的多基因风险评分的计算.
- 调解分析,以评估CAD严重程度在将遗传风险与临床结果联系中的作用.
主要成果:
- PRS_CHD的1-SD增加与加重的CAD严重程度显著相关,用日志格森尼得分来衡量.
- 在FH基因中的致病变体与更高的CAD严重程度有关,即使在调整PRS_CHD之后.
- PRS_CHD与发生的心肌梗塞有关,CAD严重程度介导了这一关联的90%.
结论:
- 冠状动脉疾病的多基因风险得分与冠状动脉疾病的严重程度有关.
- CAD 严重程度在很大程度上调解了遗传倾向和心肌梗塞之间的联系,突出显著的遗传重叠.
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