1Division of Cardiology, Departments of Medicine and Pharmacology, University of Illinois at Chicago, Chicago, Illinois, USA.
2Department of Medicine Jesse Brown Veterans Administration Medical Center, Chicago, Illinois, USA.
Address correspondence to: Dawood Darbar, 840 S. Wood St., 920S (MC 715), University of Illinois at Chicago, Chicago, Illinois 60612, USA. Phone: 1.312.413.8870; Email: firstname.lastname@example.org.
Published January 19, 2021 - More info
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.
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