Analysis of cardiac magnetic resonance imaging in 36,000 individuals yields genetic insights into dilated cardiomyopathy
Open accessAbstract
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.
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In silico deletion of genes linked by a prior GWAS to cardiac MRI traits relevant to cardiac disease had a larger effect compared to the control set.
“In silico deletion of genes linked by a prior genome-wide association study24 (GWAS) to cardiac magnetic resonance imaging (MRI) traits relevant to cardiac disease also had a larger effect compared to the control set (Extended Data Fig. 7b).”
From Transfer learning enables predictions in network biology (2023) · cites this paper as [24]
Effect on cardiomyocyte embeddings from in silico deletion of genes linked by TWAS-prioritized GWAS to cardiac MRI traits relevant to cardiac pathology was significantly different compared to in silico deletion of control cardiac disease genes expressed in cardiomyocytes but whose pathology occurs in non-cardiomyocyte cell types (hyperlipidemia).
“Effect on cardiomyocyte embeddings from in silico deletion of genes linked by prior transcriptome-wide association study (TWAS)-prioritized GWAS24 to cardiac MRI traits relevant to cardiac pathology (left ventricular (LV) end diastolic volume (EDV), LV end systolic volume (LVESV), LV ejection fraction (LVEF), and stroke volume (SV)) compared to in silico deletion of control cardiac disease genes”
From Transfer learning enables predictions in network biology (2023) · cites this paper as [24]
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Pitfalls in performing genome-wide association studies on ratio traits
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- Authors
- Pirruccello, J. P., Bick, A., Wang, M., Chaffin, M., Friedman, S., Yao, J., Guo, X., Venkatesh, B. A., Taylor, K. D., Post, W. S., Rich, S., Lima, J. A. C., Rotter, J. I., Philippakis, A., Lubitz, S. A., Ellinor, P. T., Khera, A. V., Kathiresan, S., & Aragam, K. G.
- Affiliations
- Broad Institute (US)
- The Lundquist Institute (US)
- Johns Hopkins University (US)
- University of Virginia (US)
- Corresponding author
- Aragam, Krishna G.
- ORCID
- Venue
- Nature Communications
- Published
- 2020-05-07
- Volume
- 11
- Issue
- 1
- Pages
- 2254-2254
- ISSN
- 2041-1723 (ISSN-L)
- PMC
- PMC7206184
- OpenAlex
- W3023537913
- Cited by
- 267
- References
- 70
- Citations by year
- 2026: 33 · 2025: 42 · 2024: 45 · 2023: 58 · 2022: 51 · 2021: 32 · 2020: 6
- FWCI
- 22.74
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- Nature Communications (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- eScholarship (California Digital Library) (submittedVersion, cc-by)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- John S LaDue Memorial Fellowship for Cardiovascular Research
- Foundation for the National Institutes of Health (1R01HL139731, R01HL128914, K24HL105780, HL127564)
- American Heart Association (18SFRN34250007, 18SFRN34110082, 17IFUNP33840012)
- Fondation Leducq (14CVD01)
- Topics
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiomyopathy and Myosin Studies
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Cardiac electrophysiology and arrhythmias
- Keywords
- dilated cardiomyopathy, cardiac magnetic resonance imaging, left ventricular end-systolic volume, genome-wide association study, polygenic risk score, common genetic variants, cardiac structure and function, heart failure, heart transplantation
- MeSH terms
- Cardiomyopathy, Dilated, Heart, Humans, Magnetic Resonance Imaging, Myocardium, Polymorphism, Single Nucleotide, Genome-Wide Association Study
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