The following study was conducted by Scientists from Division of Cardiology, Massachusetts General Hospital, Boston; Center for Genomic Medicine, Massachusetts General Hospital, Boston; Program in Medical and Population Genetics, Broad Institute, Cambridge; Department of Medicine, Massachusetts General Hospital, Boston; Data Sciences Platform, Broad Institute, Cambridge, USA; The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, CA, USA; Department of Radiology, Johns Hopkins University, Baltimore, MA, USA; Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health, Baltimore, MA, USA; Department of Medicine, Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MA, USA; Center for Public Health Genomics, University of Virginia, Charlottesville, VA, USA; Division of Cardiology, Johns Hopkins University School of Medicine, Baltimore, MA, USA; Harvard Medical School, Boston, MA, USA; Verve Therapeutics, Cambridge, MA, USA. Study is published in Nature Communications Journal as detailed below
Nature Communications; Volume 11, Article number: 2254 (2020)
Analysis of Cardiac Magnetic Resonance Imaging in 36,000 Individuals Yields Genetic Insights into Dilated Cardiomyopathy
Abstract
Dilated cardiomyopathy (DCM) is an important cause of heart failure and the leading indication for heart transplantation. Many rare genetic variants have been associated with DCM, but common variant studies of the disease have yielded few associated loci. As structural changes in the heart are a defining feature of DCM, we report a genome-wide association study of cardiac magnetic resonance imaging (MRI)-derived left ventricular measurements in 36,041 UK Biobank participants, with replication in 2184 participants from the Multi-Ethnic Study of Atherosclerosis. We identify 45 previously unreported loci associated with cardiac structure and function, many near well-established genes for Mendelian cardiomyopathies. A polygenic score of MRI-derived left ventricular end systolic volume strongly associates with incident DCM in the general population. Even among carriers of TTN truncating mutations, this polygenic score influences the size and function of the human heart. These results further implicate common genetic polymorphisms in the pathogenesis of DCM.
Source:
Nature Communications
URL: https://www.nature.com/articles/s41467-020-15823-7
Citation:
Pirruccello, J. P., A. Bick, et al. (2020). “Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy.” Nature Communications 11(1): 2254.
