| Title: | Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy |
| Journal: | Nature Communications |
| Published: | 7 May 2020 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/32382064/ |
| DOI: | https://doi.org/10.1038/s41467-020-15823-7 |
| URL: | https://escholarship.org/uc/item/67c1r06x |
| Citations: | 169 (67 in last 2 years) as of 8 Aug 2024 |
Publication 3455
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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.</p>
7 Keywords
- Cardiomyopathy, Dilated
- Genome-Wide Association Study
- Heart
- Humans
- Magnetic Resonance Imaging
- Myocardium
- Polymorphism, Single Nucleotide
19 Authors
- 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
1 Application
| Application ID | Title |
|---|---|
| 7089 | Exome Sequencing of All Premature Coronary Artery Disease Participants in UK Biobank |
Enabling scientific discoveries that improve human health