ArticleProceedings of the National Academy of Sciences of the United States of America2011
Common variant near the endothelin receptor type A (EDNRA) gene is associated with intracranial aneurysm risk.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 2 registered trials, which are not on this map. Cited by 61 papers, 3 of them syntheses that pooled it.
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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.
The trial behind it
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.
@neurIST : Informatique biomédicale intégrée Pour la Gestion Des anévrismes cérébraux
Genetic Profile in Patients With Ruptured and Unruptured Intracranial Aneurysms: Observational Study Aimed at Identifying Genetic Variants Associated With the Risk of Intracranial Aneurysm Rupture
Who cites it
61 citing papers in PubMed, 3 syntheses or guidelines pooled it, 120 citations in OpenAlex.
- Genome-wide association study of intracranial aneurysm identifies a new association on chromosome 7.Stroke · 2014Pooled it
- Genetic risk factors for intracranial aneurysms: a meta-analysis in more than 116,000 individuals.Neurology · 2013Pooled it
- Intracranial aneurysm risk locus 5q23.2 is associated with elevated systolic blood pressure.PLoS genetics · 2012Pooled it
- Global burden of subarachnoid hemorrhage in young adults, 1990-2021: disparities, risk factors, and projections to 2050.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026Article
- Intracranial Aneurysm-Associated COL22A1 Variants Impair Cerebrovascular Structure and Barrier Integrity in Zebrafish.International journal of molecular sciences · 2026Article
- Chapter 1: The Natural History of Intracranial Aneurysms.Brain sciences · 2026Review
- Biology, Physics, and Genetics of Intracranial Aneurysm Formation: A Review.Journal of neurological surgery. Part A, Central European neurosurgery · 2026Review
- Molecular Targets for Intracranial Aneurysm Treatment.International journal of molecular sciences · 2025Review
- Intracranial Aneurysm Biomarkers: A Convergence of Genetics, Inflammation, Oxidative Stress, and the Extracellular Matrix.International journal of molecular sciences · 2025Review
- Review
- Decoding the Cell Atlas and Inflammatory Features of Human Intracranial Aneurysm Wall by Single-Cell RNA Sequencing.Journal of the American Heart Association · 2024Article
- Intracranial Aneurysms and Genetics: An Extensive Overview of Genomic Variations, Underlying Molecular Dynamics, Inflammatory Indicators, and Forward-Looking Insights.Brain sciences · 2023Review
- A temporal single cell transcriptome atlas of zebrafish anterior segment development.Scientific reports · 2023Article
- ER ribosomal-binding protein 1 regulates blood pressure and potassium homeostasis by modulating intracellular renin trafficking.Journal of biomedical science · 2023Article
- Experimental Induction of Intracranial Aneurysms in Rats: A New Model Utilizing a Genetic Modification within the EDNRA Gene.Brain sciences · 2022Article
- Potential triggering factors associated with aneurysmal subarachnoid hemorrhage: A large single-center retrospective study.Journal of clinical hypertension (Greenwich, Conn.) · 2022Article
- Review
- Numerical Assessment of the Risk of Abnormal Endothelialization for Diverter Devices: Clinical Data Driven Numerical Study.Journal of personalized medicine · 2022Article
- The quest to unravel the complex genomics of intracranial aneurysms.Nature cardiovascular research · 2022Article
- Whole-exome sequencing in a Japanese multiplex family identifies new susceptibility genes for intracranial aneurysms.PloS one · 2022Article
1 more citing papers are in PubMed but not listed here.
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Authors and funding
28 authors at 16 institutions in 9 countries.
Funding
Abstract
The pathogenesis of intracranial aneurysm (IA) formation and rupture is complex, with significant contribution from genetic factors. We previously reported genome-wide association studies based on European discovery and Japanese replication cohorts of 5,891 cases and 14,181 controls that identified five disease-related loci. These studies were based on testing replication of genomic regions that contained SNPs with posterior probability of association (PPA) greater than 0.5 in the discovery cohort. To identify additional IA risk loci, we pursued 14 loci with PPAs in the discovery cohort between 0.1 and 0.5. Twenty-five SNPs from these loci were genotyped using two independent Japanese cohorts, and the results from discovery and replication cohorts were combined by meta-analysis. The results demonstrated significant association of IA with rs6841581 on chromosome 4q31.23, immediately 5' of the endothelin receptor type A with P = 2.2 × 10(-8) [odds ratio (OR) = 1.22, PPA = 0.986]. We also observed substantially increased evidence of association for two other regions on chromosomes 12q22 (OR = 1.16, P = 1.1 × 10(-7), PPA = 0.934) and 20p12.1 (OR = 1.20, P = 6.9 × 10(-7), PPA = 0.728). Although endothelin signaling has been hypothesized to play a role in various cardiovascular disorders for over two decades, our results are unique in providing genetic evidence for a significant association with IA and suggest that manipulation of the endothelin pathway may have important implications for the prevention and treatment of IA.
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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.