An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.

doi:10.1111/ahg.12424

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.

Annals of human genetics - 1 Sept 2021

Koganebuchi Kae, Sato Kimitoshi, Fujii Kiyotaka, Kumabe Toshihiro, Haneji Kuniaki, Toma Takashi, Ishida Hajime, Joh Keiichiro, Soejima Hidenobu, Mano Shuhei, Ogawa Motoyuki, Oota Hiroki

Abstract excerpt

BACKGROUND: Ring 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. METHODS: The RNF213 locus of 24 MMD patients in Japan were sequenced using...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adenosine Triphosphatases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Evolution, Molecular

Share to Genetics, Population

Share to Haplotypes

Share to Japan

Share to Linkage Disequilibrium

Share to Moyamoya Disease

Share to Ubiquitin-Protein Ligases

Source

Open in PubMed Open full text

Identifiers

PMID: 34013582
DOI: 10.1111/ahg.12424
PMCID: PMC8453937

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An analysis of the demographic history of the risk allele R4810K in RNF213 of moyamoya disease.PMID 34013582Read ↗

Meta-analysis of the association between RNF213 polymorphisms and clinical features of moyamoya disease in Asian population.Semantic proximity Read ↗

Distribution of moyamoya disease susceptibility polymorphism p.R4810K in RNF213 in East and Southeast Asian populations.Semantic proximity Read ↗

Frequency of the moyamoya-related RNF213 p.Arg4810Lys variant in 1,516 Korean individualsSemantic proximity Read ↗

Predictive role of heterozygous p.R4810K of RNF213 in the phenotype of Chinese moyamoya disease.Semantic proximity Read ↗

Moyamoya vasculopathy shows a genetic mutational gradient decreasing from East to West.Semantic proximity Read ↗

RNF213 rare variants in an ethnically diverse population with Moyamoya disease.Semantic proximity Read ↗

Importance of RNF213 polymorphism on clinical features and long-term outcome in moyamoya disease.Semantic proximity Read ↗

Frequency and significance of rare RNF213 variants in patients with adult moyamoya disease.Semantic proximity Read ↗

RNF213 polymorphism and Moyamoya disease: A systematic review and meta-analysis.Semantic proximity Read ↗

The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a meta-analysis based on case-control studies.Semantic proximity Read ↗

A genome-wide association study identifies RNF213 as the first Moyamoya disease gene.Semantic proximity Read ↗

RNF213 p.R4810K Polymorphism and the Risk of Moyamoya Disease, Intracranial Major Artery Stenosis/Occlusion, and Quasi-Moyamoya Disease: A Meta-Analysis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.