ArticleAnnals of human genetics2021
An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.
Article in Annals of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 7 citations in OpenAlex.
- Allele frequency patterns of 78,122,254 SNPs illuminate diverse possible evolutionary trajectories of human populations.Scientific reports · 2026Article
- Non-Atherosclerotic and Genetic Intracranial Stenoses: Diagnostic Challenges and Emerging Genetic Insights.Journal of neuroendovascular therapy · 2026Review
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Synergistic Interaction of Thyroid Autoantibodies and Ring Finger Protein 213 Variant in Moyamoya Disease.Neurologia medico-chirurgica · 2024Article
- An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.Annals of human genetics · 2021Article
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
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Abstract
backgroundRing finger protein 213 (RNF213) is a susceptibility gene of moyamoya disease (MMD). A previous case-control study and a family analysis demonstrated a strong association of the East Asian-specific variant, R4810K (rs112735431), with MMD. Our aim is to uncover evolutionary history of R4810K in East Asian populations.
methodsThe RNF213 locus of 24 MMD patients in Japan were sequenced using targeted-capture sequencing. Based on the sequence data, we conducted population genetic analysis and estimated the age of R4810K using coalescent simulation.
resultsThe diversity of the RNF213 gene was higher in Africans than non-Africans, which can be explained by bottleneck effect of the out-of-Africa migration. Coalescent simulation showed that the risk variant was born in East Asia 14,500-5100 years ago and came to the Japanese archipelago afterward, probably in the period when the known migration based on archaeological evidences occurred.
conclusionsAlthough clinical data show that the symptoms varies, all sequences harboring the risk allele are almost identical with a small number of exceptions, suggesting the MMD phenotypes are unaffected by the variants of this gene and rather would be more affected by environmental factors.
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