Division of Cardiology, Departments of Medicine and Pharmacology, University of Illinois at Chicago, Chicago, Illinois, USA.
Department of Medicine Jesse Brown Veterans Administration Medical Center, Chicago, Illinois, USA.
J Clin Invest. 2021 Jan 19;131(2). doi: 10.1172/JCI145377.
The genetic, epigenetic, and environmental etiologic basis of congenital heart disease (CHD) for most heart anomalies remains unexplained. In this issue of the JCI, Lahm et al. performed the largest genome-wide association study (GWAS) to date of European individuals with CHD and clinical subtypes. The comprehensive meta-analysis included over 4000 patients and 8000 controls and uncovered common genetic variants that associated with cardiac anomalies. Lahm and colleagues performed single-cell analysis of induced pluripotent stem cells and heart cells, revealing a role for MACROD2, GOSR2, WNT3, and MSX1 in the developing heart. This study advances our understanding of the genetic basis of common forms of CHD.
大多数心脏畸形的先天性心脏病 (CHD) 的遗传、表观遗传和环境病因基础仍然未知。在本期 JCI 中，Lahm 等人对欧洲 CHD 患者和临床亚型进行了迄今为止最大的全基因组关联研究 (GWAS)。这项综合荟萃分析包括 4000 多名患者和 8000 名对照者，并发现了与心脏畸形相关的常见遗传变异。Lahm 及其同事对诱导多能干细胞和心脏细胞进行了单细胞分析，揭示了 MACROD2、GOSR2、WNT3 和 MSX1 在心脏发育中的作用。这项研究推进了我们对常见 CHD 形式遗传基础的理解。
