ArticleJournal of the American College of Cardiology2023
The Genetic Determinants of Aortic Distention.
Article in Journal of the American College of Cardiology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers, 2 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
16 citing papers in PubMed, 2 syntheses or guidelines pooled it, 32 citations in OpenAlex.
- A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases.EBioMedicine · 2025Pooled it
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
- Translating genome-wide association studies at multiple scales: Drug target prioritization, cellular architectures, and organ imaging.Cell genomics · 2026Review
- AI-driven radiomics in vascular disease: a narrative review of image analysis and clinical translation.Cardiovascular diagnosis and therapy · 2026Review
- Ultrasound-guided left heart injection: a safer and more efficient strategy for mouse thoracic aortic gene delivery.Gene therapy · 2026Article
- Sex-specific placental transcriptome alterations in late-onset preeclampsia reveal male-biased immune and metabolic dysregulation.Biology of sex differences · 2025Observational
- Mendelian Randomization Suggests a Causal Link Between Glycemic Traits and Thoracic Aortic Structures and Diseases.JACC. Basic to translational science · 2025Article
- Causal relevance of clonal haematopoiesis with cardiac disease and adverse remodelling: a Mendelian randomisation study.Open heart · 2025Article
- Region-specific gene expression and sex inform about disease susceptibility in the aorta.Nature cardiovascular research · 2025Article
- Digital Therapeutics in Cardiovascular Healthcare: A Narrative Review.Current cardiology reports · 2025Review
- Novel Insights into Causal Effects of Serum Lipids and Apolipoproteins on Cardiovascular Morpho-Functional Phenotypes.Cardiovascular toxicology · 2024Article
- The AORTA Gene score for detection and risk stratification of ascending aortic dilation.European heart journal · 2024Article
- Improved polygenic risk prediction in migraine-first patients.The journal of headache and pain · 2024Article
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Effects of diabetes mellitus and glycemic traits on cardiovascular morpho-functional phenotypes.Cardiovascular diabetology · 2023Article
- Thoracic Aorta: Anatomy and Pathology.Diagnostics (Basel, Switzerland) · 2023Review
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Authors and funding
16 authors at 4 institutions in 4 countries.
Funding
Abstract
backgroundAs the largest conduit vessel, the aorta is responsible for the conversion of phasic systolic inflow from ventricular ejection into more continuous peripheral blood delivery. Systolic distention and diastolic recoil conserve energy and are enabled by the specialized composition of the aortic extracellular matrix. Aortic distensibility decreases with age and vascular disease.
objectivesIn this study, we sought to discover epidemiologic correlates and genetic determinants of aortic distensibility and strain.
methodsWe trained a deep learning model to quantify thoracic aortic area throughout the cardiac cycle from cardiac magnetic resonance images and calculated aortic distensibility and strain in 42,342 UK Biobank participants.
resultsDescending aortic distensibility was inversely associated with future incidence of cardiovascular diseases, such as stroke (HR: 0.59 per SD; P = 0.00031). The heritabilities of aortic distensibility and strain were 22% to 25% and 30% to 33%, respectively. Common variant analyses identified 12 and 26 loci for ascending and 11 and 21 loci for descending aortic distensibility and strain, respectively. Of the newly identified loci, 22 were not significantly associated with thoracic aortic diameter. Nearby genes were involved in elastogenesis and atherosclerosis. Aortic strain and distensibility polygenic scores had modest effect sizes for predicting cardiovascular outcomes (delaying or accelerating disease onset by 2%-18% per SD change in scores) and remained statistically significant predictors after accounting for aortic diameter polygenic scores.
conclusionsGenetic determinants of aortic function influence risk for stroke and coronary artery disease and may lead to novel targets for medical intervention.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.