ArticleEBioMedicine2022
Genomic insights in ascending aortic size and distensibility.
Article in EBioMedicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 40 citations in OpenAlex.
- ZNF827 pleiotropic cardiovascular risk locus involves regulation by nuclear factor-1.Clinical science (London, England : 1979) · 2026Article
- Cardiovascular measures from abdominal MRI provide insights into abdominal vessel genetic architecture.Communications medicine · 2026Article
- Epigenomic landscape of single vascular cells reflects developmental origin and disease risk loci.Molecular systems biology · 2025Article
- Mendelian Randomization Suggests a Causal Link Between Glycemic Traits and Thoracic Aortic Structures and Diseases.JACC. Basic to translational science · 2025Article
- The epigenomic landscape of single vascular cells reflects developmental origin and identifies disease risk loci.bioRxiv : the preprint server for biology · 2025Article
- Phenotypic findings associated with variation in elastin.HGG advances · 2025Article
- Cardiac Molecular Analysis Reveals Aging-Associated Metabolic Alterations Promoting Glycosaminoglycans Accumulation via Hexosamine Biosynthetic Pathway.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Identification of potential biomarkers for atrial fibrillation and stable coronary artery disease based on WGCNA and machine algorithms.BMC cardiovascular disorders · 2024Article
- Protein Identification for Stroke Progression via Mendelian Randomization in Million Veteran Program and UK Biobank.Stroke · 2024Article
- Article
- Emerging roles for the ADAMTS-like family of matricellular proteins in cardiovascular disease through regulation of the extracellular microenvironment.Molecular biology reports · 2024Review
- Matrisome and Immune Pathways Contribute to Extreme Vascular Outcomes in Williams-Beuren Syndrome.Journal of the American Heart Association · 2024Article
- Genetic architecture of cardiac dynamic flow volumes.Nature genetics · 2024Article
- Using Genomics to Identify Novel Therapeutic Targets for Aortic Disease.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Diversity in genetic risk of recurrent stroke: a genome-wide association study meta-analysis.Frontiers in stroke · 2024Article
- Effects of diabetes mellitus and glycemic traits on cardiovascular morpho-functional phenotypes.Cardiovascular diabetology · 2023Article
- Cardiac Molecular Analysis Reveals Aging-Associated Metabolic Alterations Promoting Glycosaminoglycans Accumulation Via Hexosamine Biosynthetic Pathway.bioRxiv : the preprint server for biology · 2023Article
- Causal Role for Neutrophil Elastase in Thoracic Aortic Dissection in Mice.Arteriosclerosis, thrombosis, and vascular biology · 2023Article
- Emerging role of radiogenomics in genetically triggered thoracic aortic aneurysm and dissection: a narrative review.Annals of translational medicine · 2023Review
- Environmental and genetic predictors of human cardiovascular ageing.Nature communications · 2023Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
backgroundAlterations in the anatomic and biomechanical properties of the ascending aorta (AAo) can give rise to various vascular pathologies. The aim of the current study is to gain additional insights in the biology of the AAo size and function.
methodsWe developed an AI based analysis pipeline for the segmentation of the AAo, and the extraction of AAO parameters. We then performed genome-wide association studies of AAo maximum area, AAo minimum area and AAo distensibility in up to 37,910 individuals from the UK Biobank. Variants that were significantly associated with AAo phenotypes were used as instrumental variables in Mendelian randomization analyses to investigate potential causal relationships with coronary artery disease, myocardial infarction, stroke and aneurysms.
findingsGenome-wide association studies revealed a total of 107 SNPs in 78 loci. We annotated 101 candidate genes involved in various biological processes, including connective tissue development (THSD4 and COL6A3). Mendelian randomization analyses showed a causal association with aneurysm development, but not with other vascular diseases.
interpretationWe identified 78 loci that provide insights into mechanisms underlying AAo size and function in the general population and provide genetic evidence for their role in aortic aneurysm development.
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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.