ArticleJournal of the American College of Cardiology2022
Spatially Distinct Genetic Determinants of Aortic Dimensions Influence Risks of Aneurysm and Stenosis.
Article in Journal of the American College of Cardiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 23 citations in OpenAlex.
- Pathogenesis, Diagnosis, and Clinical Management of Aortic Aneurysms: Current Status and Future Perspectives.Reviews in cardiovascular medicine · 2026Review
- Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.Communications medicine · 2026Article
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Multitrait analyses identify genetic variants associated with aortic valve function and aortic stenosis risk.Nature genetics · 2026Article
- 2025 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2025Review
- Adopting artificial intelligence in cardiovascular medicine: a scoping review.Hypertension research : official journal of the Japanese Society of Hypertension · 2024Article
- 2024 Heart Disease and Stroke Statistics: A Report of US and Global Data From the American Heart Association.Circulation · 2024Review
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Artificial Intelligence in the Screening, Diagnosis, and Management of Aortic Stenosis.Reviews in cardiovascular medicine · 2024Review
- Clinical presentation, outcomes, and threshold for repair by sex in degenerative saccular vs fusiform aneurysms in the descending thoracic aorta.Journal of vascular surgery · 2023Article
- Genetics and mechanisms of thoracic aortic disease.Nature reviews. Cardiology · 2023Review
- A machine learning approach for predicting descending thoracic aortic diameter.Frontiers in cardiovascular medicine · 2023Article
- Development of a Prediction Model for Ascending Aortic Diameter Among Asymptomatic Individuals.JAMA · 2022Article
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Authors and funding
13 authors at 3 institutions in 1 country.
Funding
Abstract
backgroundThe left ventricular outflow tract (LVOT) and ascending aorta are spatially complex, with distinct pathologies and embryologic origins. Prior work examined the genetics of thoracic aortic diameter in a single plane.
objectivesWe sought to elucidate the genetic basis for the diameter of the LVOT, aortic root, and ascending aorta.
methodsUsing deep learning, we analyzed 2.3 million cardiac magnetic resonance images from 43,317 UK Biobank participants. We computed the diameters of the LVOT, the aortic root, and at 6 locations of ascending aorta. For each diameter, we conducted a genome-wide association study and generated a polygenic score. Finally, we investigated associations between these scores and disease incidence.
resultsA total of 79 loci were significantly associated with at least 1 diameter. Of these, 35 were novel, and most were associated with 1 or 2 diameters. A polygenic score of aortic diameter approximately 13 mm from the sinotubular junction most strongly predicted thoracic aortic aneurysm (n = 427,016; mean HR: 1.42 per SD; 95% CI: 1.34-1.50; P = 6.67 × 10
conclusionsWe detected distinct genetic loci underpinning the diameters of the LVOT, aortic root, and at several segments of ascending aorta. We spatially defined a region of aorta whose genetics may be most relevant to predicting thoracic aortic aneurysm. We further described a genetic signature that may predispose to aortic stenosis. Understanding genetic contributions to proximal aortic diameter may enable identification of individuals at risk for aortic disease and facilitate prioritization of therapeutic targets.
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