Department of Cardiology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Hubei Key Laboratory of Biological Targeted Therapy, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
J Clin Hypertens (Greenwich). 2024 Nov;26(11):1301-1309. doi: 10.1111/jch.14912. Epub 2024 Oct 7.
Although observational studies have linked primary aldosteronism (PA) with cardiovascular diseases (CVDs), the causality remains uncertain. In this study, we aimed to investigate whether PA is causally associated with CVD risk and cardiac magnetic resonance (CMR) parameters using the Mendelian randomization (MR) method. Independent and genome-wide significant single nucleotide polymorphisms for PA were extracted from genome-wide association study (GWAS) summary statistics. Genetic associations with the CVDs and CMR parameters were obtained from recent large-scale GWASs or genetic consortia. Inverse-variance weighted (IVW) method was utilized for the preliminary estimates, and multiple sensitivity analyses (including weighted median, Cochran's Q test, MR-Egger, MR-PRESSO, and leave-one-out analysis) were conducted to verify the robustness of the results. The MR analyses using the IVW method showed that genetically predicated PA was significantly associated with atrial fibrillation (OR = 1.046, 95% CI: 1.029-1.062, padj < 0.001), myocardial infarction (OR = 1.029, 95% CI: 1.005-1.053, padj = 0.027), heart failure (OR = 1.023, 95% CI: 1.004-1.042, padj = 0.027), any stroke (OR = 1.062, 95% CI: 1.031-1.095, padj < 0.001), any ischemic stroke (OR = 1.058, 95% CI: 1.022-1.095, padj = 0.004), and small vessel stroke (OR = 1.116, 95% CI: 1.041-1.196, padj = 0.004). Notably, PA also had a causal effect on adverse cardiac remodeling, including larger ventricular and atrial volumes, higher ventricular stroke volume, and reduced left atrial emptying fraction. Our findings support a causal role of PA in higher cardiovascular disease risk and adverse cardiac remodeling. Given the diagnostic delay and disease burden in PA, more attention should be paid to the screening and treatment of PA to reduce the incidence of cardiovascular outcomes.
虽然观察性研究表明原发性醛固酮增多症(PA)与心血管疾病(CVDs)有关,但因果关系仍不确定。在这项研究中,我们旨在使用孟德尔随机化(MR)方法研究 PA 是否与 CVD 风险和心脏磁共振(CMR)参数有因果关系。从全基因组关联研究(GWAS)汇总统计中提取了用于 PA 的独立和全基因组显著单核苷酸多态性。从最近的大型 GWAS 或遗传联盟中获得了与 CVD 和 CMR 参数的遗传关联。使用逆方差加权(IVW)方法进行初步估计,并进行了多种敏感性分析(包括加权中位数、Cochran's Q 检验、MR-Egger、MR-PRESSO 和单样本剔除分析)以验证结果的稳健性。使用 IVW 方法的 MR 分析表明,遗传预测的 PA 与心房颤动(OR=1.046,95%CI:1.029-1.062,padj<0.001)、心肌梗死(OR=1.029,95%CI:1.005-1.053,padj=0.027)、心力衰竭(OR=1.023,95%CI:1.004-1.042,padj=0.027)、任何类型的中风(OR=1.062,95%CI:1.031-1.095,padj<0.001)、任何类型的缺血性中风(OR=1.058,95%CI:1.022-1.095,padj=0.004)和小血管中风(OR=1.116,95%CI:1.041-1.196,padj=0.004)显著相关。值得注意的是,PA 对不良心脏重塑也有因果作用,包括更大的心室和心房容积、更高的心室射血容积和降低的左心房排空分数。我们的研究结果支持 PA 与更高的心血管疾病风险和不良心脏重塑有关。鉴于 PA 的诊断延迟和疾病负担,应更加关注 PA 的筛查和治疗,以降低心血管结局的发生率。