心肌病相关的基因变异在心房动中存在
Leonoor F J M Wijdeveld1,2, Ezimamaka Ajufo1, Saketh P Challa1
1Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts.
JAMA cardiology
|April 30, 2025
概括
与遗传性心肌病相关的遗传变异在心房动 (AF) 患者中更为常见. 这些变体增加了AF患者患心肌病或心力衰竭 (CMP/HF) 的风险.
科学领域:
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 公共卫生 公共卫生
背景情况:
- 心房动 (AF) 是一种常见的心律失常症,与遗传性心肌病变的风险增加有关.
- 之前对AF遗传变异的研究受限于样本规模较小和缺乏结果数据.
研究的目的:
- 确定心肌病相关的致病性或可能致病性 (CMP-PLP) 遗传变异在AF患者中的患病率.
- 评估这些变异对患心肌病或心力衰竭 (CMP/HF) 风险的预后影响.
主要方法:
- 对两项大型前性纵向队列研究的分析:英国生物银行 (UKB) 和我们所有人的研究计划 (AllofuS).
- 在AF和早期发作的AF患者中评估CMP-PLP变体的流行率.
- 评估CMP-PLP变体与发生的CMP/HF之间的关联,考虑临床和多基因风险因素.
主要成果:
- 与一般生物库人群相比,CMP-PLP变异在AF患者中流行率是一般生物库人群的两倍.
- 在AF患者中,携带CMP-PLP变体与发生CMP/HF风险增加1.6倍有关.
- CMP-PLP变体,多基因风险得分和临床因素独立预测了CMP/HF风险.
结论:
- 在患有AF的患者中,CMP-PLP变异的大量患病率存在,特别是早期发作的AF.
- 在AF患者中进行基因检测可以识别患有CMP/HF风险较高的个体.
- CMP-PLP变体是AF患者未来CMP/HF的重要独立预测因素.
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