ArticleAmerican journal of human genetics2016
RNF213 Is Associated with Intracranial Aneurysms in the French-Canadian Population.
Article in American journal of human genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 1 of them a synthesis that pooled it.
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Who cites it
34 citing papers in PubMed, 1 synthesis or guideline pooled it, 66 citations in OpenAlex.
- Pooled it
- RNF213 in Panvascular Disease: A Molecular Hub Linking Genetic Susceptibility to Systemic Vasculopathy.Biomedicines · 2026Review
- Biology, Physics, and Genetics of Intracranial Aneurysm Formation: A Review.Journal of neurological surgery. Part A, Central European neurosurgery · 2026Review
- Review
- ExploringBiomedicines · 2024Review
- Gene Commonality in Arterial Circuits Throughout the Body.Aorta (Stamford, Conn.) · 2024Article
- Association of rareAnnals of translational medicine · 2022Article
- Mystery(n) Phenotypic Presentation in Europeans: Report of Three Further Novel MissenseInternational journal of molecular sciences · 2022Review
- Activated leukocyte cell adhesion molecule/cluster of differentiation 166 rs10933819 (G>A) variant is associated with familial intracranial aneurysms.Biomedical reports · 2022Article
- Novel Multifaceted Roles for RNF213 Protein.International journal of molecular sciences · 2022Review
- Article
- The Genetic Basis of Moyamoya Disease.Translational stroke research · 2022Review
- Whole Exome Sequencing in Patients with Phenotypically Associated Familial Intracranial Aneurysm.Korean journal of radiology · 2022Article
- PPIL4 is essential for brain angiogenesis and implicated in intracranial aneurysms in humans.Nature medicine · 2021Article
- Article
- Rare Neurovascular Diseases in Korea: Classification and Related Genetic Variants.Korean journal of radiology · 2021Review
- Mutations ofJournal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and Metabolism · 2021Article
- Development and Validation of a Nomogram to Predict the Individual Future Stroke Risk for Adult Patients With Moyamoya Disease: A Multicenter Retrospective Cohort Study in China.Frontiers in neurology · 2021Article
- Pericyte Ontogeny: The Use of Chimeras to Track a Cell Lineage of Diverse Germ Line Origins.Methods in molecular biology (Clifton, N.J.) · 2021Article
- A Rare Variant ofFrontiers in neurology · 2021Article
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Authors and funding
19 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Intracranial aneurysms (IAs) are the result of focal weakness in the artery wall and have a complex genetic makeup. To date, genome-wide association and sequencing studies have had limited success in identifying IA risk factors. Distinct populations, such as the French-Canadian (FC) population, have increased IA prevalence. In our study, we used exome sequencing to prioritize risk variants in a discovery cohort of six FC families affected by IA, and the analysis revealed an increased variation burden for ring finger protein 213 (RNF213). We resequenced RNF213 in a larger FC validation cohort, and association tests on further identified variants supported our findings (SKAT-O, p = 0.006). RNF213 belongs to the AAA+ protein family, and two variants (p.Arg2438Cys and p.Ala2826Thr) unique to affected FC individuals were found to have increased ATPase activity, which could lead to increased risk of IA by elevating angiogenic activities. Common SNPs in RNF213 were also extracted from the NeuroX SNP-chip genotype data, comprising 257 FC IA-affected and 1,988 control individuals. We discovered that the non-ancestral allele of rs6565666 was significantly associated with the affected individuals (p = 0.03), and it appeared as though the frequency of the risk allele had changed through genetic drift. Although RNF213 is a risk factor for moyamoya disease in East Asians, we demonstrated that it might also be a risk factor for IA in the FC population. It therefore appears that the function of RNF213 can be differently altered to predispose distinct populations to dissimilar neurovascular conditions, highlighting the importance of a population's background in genetic studies of heterogeneous disease.
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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.