ArticleNature communications2022
Genome-wide associations of aortic distensibility suggest causality for aortic aneurysms and brain white matter hyperintensities.
Article in Nature communications, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers, 3 of them syntheses that pooled it.
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Who cites it
39 citing papers in PubMed, 3 syntheses or guidelines pooled it, 55 citations in OpenAlex.
- Multiancestry and Multitrait GWAS Meta-Analysis on Schizophrenia With a Sample of 322,321 Unveils Genetic Links to Chronic Lung Diseases.Genes, brain, and behavior · 2026Pooled it
- A systematic review of GWAS on CMR imaging traits: genetic insights into cardiovascular structure, function, and diseases.EBioMedicine · 2025Pooled it
- Association Between Pulse Pressure and Structural Brain Changes in Aging: A Systematic Review and Meta-Analysis of Cross-Sectional and Longitudinal Studies.Journal of the American Heart Association · 2025Pooled it
- The potential effect and pathway of valsartan: genome-wide and phenome-wide association study from UK Biobank data.Pharmacogenetics and genomics · 2026Article
- The genetics of the circle of Willis come full circle.European journal of human genetics : EJHG · 2026Article
- UK Biobank at 20 - a growing, global resource for dementia research.Nature reviews. Neurology · 2026Review
- Unravelling the genetic architecture of cerebral small vessel disease in the context of stroke.Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2026Review
- Bidirectional causal association between cathepsins and neuropsychiatric disorders: univariate and multivariate Mendelian randomization study.European archives of psychiatry and clinical neuroscience · 2026Article
- Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population.European journal of human genetics : EJHG · 2026Article
- Novel Imaging Phenotype in Spinal Cerebellar Ataxia Type 8: Symmetrical White Matter Changes without Cerebellar Atrophy.Cerebellum (London, England) · 2026Article
- Cross-organ analysis reveals associations between vascular properties of the retina, the carotid and aortic arteries, and the brain.Communications medicine · 2026Article
- Fusiform dilatation of the ascending aorta and outpouching of the left A2 anterior cerebral artery segment in COL4A1 -related disorder.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Organ cross-talk: molecular mechanisms, biological functions, and therapeutic interventions for diseases.Signal transduction and targeted therapy · 2026Review
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Mapping rare protein-coding variants on multi-organ imaging traits.Nature communications · 2025Article
- Vascular Smooth Muscle Cell Metabolic Disorders in the Occurrence and Development of Aortic Aneurysms and Dissections: Implications for Therapy.Biomedicines · 2025Review
- Observational
- Potential drug targets for intracranial aneurysms identified through Mendelian randomization analysis.Neurosurgical review · 2025Article
- Thoracic aortic aneurysm.Nature reviews. Disease primers · 2025Review
- Exploring new drug treatment targets for immune related bone diseases using a multi omics joint analysis strategy.Scientific reports · 2025Article
Corrections and comments
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Authors and funding
23 authors at 15 institutions in 9 countries.
Funding
Abstract
Aortic dimensions and distensibility are key risk factors for aortic aneurysms and dissections, as well as for other cardiovascular and cerebrovascular diseases. We present genome-wide associations of ascending and descending aortic distensibility and area derived from cardiac magnetic resonance imaging (MRI) data of up to 32,590 Caucasian individuals in UK Biobank. We identify 102 loci (including 27 novel associations) tagging genes related to cardiovascular development, extracellular matrix production, smooth muscle cell contraction and heritable aortic diseases. Functional analyses highlight four signalling pathways associated with aortic distensibility (TGF-β, IGF, VEGF and PDGF). We identify distinct sex-specific associations with aortic traits. We develop co-expression networks associated with aortic traits and apply phenome-wide Mendelian randomization (MR-PheWAS), generating evidence for a causal role for aortic distensibility in development of aortic aneurysms. Multivariable MR suggests a causal relationship between aortic distensibility and cerebral white matter hyperintensities, mechanistically linking aortic traits and brain small vessel disease.
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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.