ArticleEnvironmental health and preventive medicine2013
P.R4810K, a polymorphism of RNF213, the susceptibility gene for moyamoya disease, is associated with blood pressure.
Article in Environmental health and preventive medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 40 papers, 2 of them syntheses that pooled it.
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Who cites it
40 citing papers in PubMed, 2 syntheses or guidelines pooled it, 69 citations in OpenAlex.
- Pooled it
- The association between the ring finger protein 213 (RNF213) polymorphisms and moyamoya disease susceptibility: a meta-analysis based on case-control studies.Molecular genetics and genomics : MGG · 2016Pooled it
- Multisystemic Impact of RNF213 Arg4810Lys: A Comprehensive Review of Moyamoya Disease and Associated Vasculopathies.International journal of molecular sciences · 2025Review
- Review
- Relationship BetweenJournal of the American Heart Association · 2025Article
- Article
- Knockdown the moyamoya disease susceptibility gene, RNF213, upregulates the expression of basic fibroblast growth factor and matrix metalloproteinase-9 in bone marrow derived mesenchymal stem cells.Neurosurgical review · 2024Article
- Prevalence of Systemic Hypertension and the Effects of Cerebral Revascularization in Patients With Moyamoya Disease.Stroke (Hoboken, N.J.) · 2024Article
- Article
- Genome-phenome wide association study of broadly defined headache.Brain communications · 2023Article
- Novel Multifaceted Roles for RNF213 Protein.International journal of molecular sciences · 2022Review
- Moyamoya disease with refractory hypertension associated with peripheral arterial stenosis in the renal parenchyma.CEN case reports · 2021Article
- RNF213 gene silencing upregulates transforming growth factor β1 expression in bone marrow-derived mesenchymal stem cells and is involved in the onset of Moyamoya disease.Experimental and therapeutic medicine · 2021Article
- The ring finger protein 213 gene (Rnf213) contributes to Rift Valley fever resistance in mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2021Article
- Article
- RNF213 and GUCY1A3 in Moyamoya Disease: Key Regulators of Metabolism, Inflammation, and Vascular Stability.Frontiers in neurology · 2021Review
- Identification of Genetic Factors Underlying the Association between Sodium Intake Habits and Hypertension Risk.Nutrients · 2020Article
- Moyamoya Disease and Spectrums of RNF213 Vasculopathy.Translational stroke research · 2020Review
- Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease.PloS one · 2020Article
- Association of single nucleotide polymorphisms of MTHFR, TCN2, RNF213 with susceptibility to hypertension and blood pressure.Bioscience reports · 2019Article
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundMoyamoya disease-an idiopathic vascular disorder of intracranial arteries-is often accompanied by hypertension. RNF213 has been identified as a susceptibility gene for moyamoya disease. In the present study, the association of p.R4810K (G>A) with blood pressure (BP) was investigated in a Japanese population. METHODOLOGY/PRINCIPAL
findingsThree independent study populations, the Nyukawa (n = 984), Noshiro (n = 2,443) and Field (n = 881) studies, joined this study. BP, body weight and height were measured. Past and present symptoms and disease and medication histories were assessed by interview. Associations of p.R4810K (rs112735431, ss179362673) of RNF213 with BP were investigated. Two linkage disequilibrium blocks were constructed for moyamoya patients with p.R4810K (n = 140) and the general population (n = 384) using 39 single nucleotide polymorphisms (SNPs) spanning 390 kb around RNF213. A total of 60 carriers (3 for AA genotype and 57 for GA genotype) were found in these samples, and the minor allele frequencies were 1.4 % in the Nyukawa and Field studies and 0.2 % in the Noshiro study. Regression analyses adjusted for age, sex and body mass index based on an additive model demonstrated significant associations with systolic BP (mmHg/allele): β (standard error) was 8.2 (2.9) in the Nyukawa study (P = 4.7 × 10(-3)), 18.7 (5.4) in the Noshiro study (P = 4.6 × 10(-4)) and 8.9 (2.0) (P = 1.0 × 10(-5)) in the three populations. In contrast, diastolic BP showed significant associations only in the Noshiro study. Linkage disequilibrium blocks contained none of the BP-associated proxy SNPs reported by previous studies. CONCLUSIONS/SIGNIFICANCE: Our study suggests that p.R4810K of RNF213 is associated strongly with systolic BP.
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