AI Article Synopsis
- This study investigates heart shape variation beyond just mass and volume, using data from 45,683 UK Biobank participants to create a heart shape atlas via cardiovascular magnetic resonance images.
- Researchers found 43 significant genetic loci associated with heart shape, including 14 that were previously unknown, showing a link between heart shape and cardiometabolic diseases.
- Specifically, two shapes tied to more spherical ventricles were linked to a higher risk of atrial fibrillation, contributing new insights into the genetic foundations of heart shape and its impact on health.
Article Abstract
Heart shape captures variation in cardiac structure beyond traditional phenotypes of mass and volume. Although observational studies have demonstrated associations with cardiometabolic risk factors and diseases, its genetic basis is less understood. We utilised cardiovascular magnetic resonance images from 45,683 UK Biobank participants to construct a heart shape atlas from bi-ventricular end-diastolic surface mesh models through principal component (PC) analysis. Genome-wide association studies were performed on the first 11 PCs that captured 83.6% of shape variance. We identified 43 significant loci, 14 were previously unreported for cardiac traits. Genetically predicted PCs were associated with cardiometabolic diseases. In particular two PCs (2 and 3) linked with more spherical ventricles being associated with increased risk of atrial fibrillation. Our study explores the genetic basis of multidimensional bi-ventricular heart shape using PCA, reporting new loci and biology, as well as polygenic risk scores for exploring genetic relationships of heart shape with cardiometabolic diseases.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11564811 | PMC |
| http://dx.doi.org/10.1038/s41467-024-53594-7 | DOI Listing |
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