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, Krishna G. Aragam

Research output: Contribution to journalArticlepeer-review

10 Scopus citations


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.

Original languageEnglish (US)
Article number2254
JournalNature communications
Issue number1
StatePublished - Dec 1 2020

ASJC Scopus subject areas

  • General
  • Physics and Astronomy(all)
  • Chemistry(all)
  • Biochemistry, Genetics and Molecular Biology(all)


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