Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy

James P. Pirruccello, Alexander Bick, Minxian Wang, Mark Chaffin, Samuel Friedman, Jie Yao, Xiuqing Guo, Bharath Ambale Venkatesh, Kent D. Taylor, Wendy S. Post, Stephen Rich, Joao A. C. Lima, Jerome I. Rotter, Anthony Philippakis, Steven A. Lubitz, Patrick T. Ellinor, Amit V. Khera, Sekar Kathiresan and Krishna G. Aragam ()
Additional contact information
James P. Pirruccello: Division of Cardiology, Massachusetts General Hospital
Alexander Bick: Center for Genomic Medicine, Massachusetts General Hospital
Minxian Wang: Program in Medical and Population Genetics, Broad Institute
Mark Chaffin: Program in Medical and Population Genetics, Broad Institute
Samuel Friedman: Data Sciences Platform, Broad Institute
Jie Yao: The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
Xiuqing Guo: The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
Bharath Ambale Venkatesh: Department of Radiology, Johns Hopkins University
Kent D. Taylor: The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
Wendy S. Post: Department of Epidemiology, Johns Hopkins University Bloomberg School of Public Health
Stephen Rich: Center for Public Health Genomics, University of Virginia
Joao A. C. Lima: Department of Radiology, Johns Hopkins University
Jerome I. Rotter: The Institute for Translational Genomics and Population Sciences, Department of Pediatrics, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center
Anthony Philippakis: Data Sciences Platform, Broad Institute
Steven A. Lubitz: Division of Cardiology, Massachusetts General Hospital
Patrick T. Ellinor: Division of Cardiology, Massachusetts General Hospital
Amit V. Khera: Division of Cardiology, Massachusetts General Hospital
Sekar Kathiresan: Division of Cardiology, Massachusetts General Hospital
Krishna G. Aragam: Division of Cardiology, Massachusetts General Hospital

Nature Communications, 2020, vol. 11, issue 1, 1-10

Abstract: 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.

Date: 2020
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DOI: 10.1038/s41467-020-15823-7

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