功能和心血管疾病:来自观察研究和门德尔随机化分析的证据
Wenjun Yang1,2, Xuemei Wu3, Manying Zhao1,2
1State Key Laboratory of Genetic Engineering, Human Phenome Institute and School of Life Sciences, Fudan University, 2005 Songhu Road, Shanghai, 200433 China.
Phenomics (Cham, Switzerland)
|October 14, 2024
概括
观察性研究将降低功能与较高的心血管疾病 (CVD) 风险联系起来. 然而,门德尔的随机化分析没有支持功能与心血管疾病风险之间的因果关系.
科学领域:
- 腎臟病學 (nephrology) 是一種醫學.
- 心脏病学 心脏病学
- 遗传学 遗传学 是一个
- 流行病学 流行病学
背景情况:
- 观察性研究表明,功能下降与心血管疾病 (CVD) 风险增加之间存在联系.
- 这种关联的因果性需要进一步调查,以区分相关性和因果关系.
研究的目的:
- 使用孟德尔随机化 (MR) 调查功能和心血管疾病风险之间的因果关系.
- 为了比较观察性关联与基因为基础的对功能和心血管疾病的因果估计.
主要方法:
- 利用了来自英国生物银行 (306,246名参与者) 的个人级数据和来自FinnGen,CARDIoGRAMplusC4D和MEGASTROKE联盟的总结级数据.
- 评估了多种功能标志物 (cystatin C,肌素,uACR,eGFR) 与心血管疾病和亚型的关联,使用观察和两样 MR 分析.
主要成果:
- 英国生物库的观察分析表明,功能下降与较高的心血管疾病风险相关 (例如,eGFRcys+增加下降与11%更高的心血管疾病风险相关).
- 两份样本的MR分析没有发现基因仪器功能与心血管疾病风险或其亚型之间的显著因果关系.
结论:
- 在观察性研究中观察到的功能和心血管疾病风险之间的反向关联可能不代表因果关系.
- 大规模MR分析的结果表明,功能下降不太可能是心血管疾病的直接原因.
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