| Title: | Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function |
| Journal: | Nature Genetics |
| Published: | 13 Jun 2022 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/35697868/ |
| DOI: | https://doi.org/10.1038/s41588-022-01083-2 |
| URL: | https://qmro.qmul.ac.uk/xmlui/bitstream/123456789/74463/2/Petersen%20Genome-wide%20association%20analysis%202021%20Accepted.pdf |
| Citations: | 27 (25 in last 2 years) as of 8 Aug 2024 |
Publication 12343
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Abstract
Right ventricular (RV) structure and function influence the morbidity and mortality from coronary artery disease (CAD), dilated cardiomyopathy (DCM), pulmonary hypertension and heart failure. Little is known about the genetic basis of RV measurements. Here we perform genome-wide association analyses of four clinically relevant RV phenotypes (RV end-diastolic volume, RV end-systolic volume, RV stroke volume, RV ejection fraction) from cardiovascular magnetic resonance images, using a state-of-the-art deep learning algorithm in 29,506 UK Biobank participants. We identify 25 unique loci associated with at least one RV phenotype at P < 2.27 ×10−8, 17 of which are validated in a combined meta-analysis (n = 41,830). Several candidate genes overlap with Mendelian cardiomyopathy genes and are involved in cardiac muscle contraction and cellular adhesion. The RV polygenic risk scores (PRSs) are associated with DCM and CAD. The findings substantially advance our understanding of the genetic underpinning of RV measurements.</p>
6 Keywords
- Cardiomyopathy, Dilated
- Genome-Wide Association Study
- Heart Ventricles
- Humans
- Stroke Volume
- Ventricular Dysfunction, Right
15 Authors
- Nay Aung
- Jose D. Vargas
- Chaojie Yang
- Kenneth Fung
- Mihir M. Sanghvi
- Stefan K. Piechnik
- Stefan Neubauer
- Ani Manichaikul
- Jerome I. Rotter
- Kent D. Taylor
- Joao A. C. Lima
- David A. Bluemke
- Steven M. Kawut
- Steffen E. Petersen
- Patricia B. Munroe
1 Application
| Application ID | Title |
|---|---|
| 2964 | Description of cardiovascular phenotype in the UK Biobank population based on cardiovascular magnetic resonance and carotid ultrasound |
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