ArticleAnnals of translational medicine2020
RNF213 gene polymorphism rs9916351 and rs8074015 significantly associated with moyamoya disease in Chinese population.
Article in Annals of translational medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 13 citations in OpenAlex.
- Isolated anterior cerebral artery occlusion: an atypical form of moyamoya disease.Stroke and vascular neurology · 2024Article
- High-resolution MRI vessel wall enhancement in moyamoya disease: risk factors and clinical outcomes.European radiology · 2024Article
- Progression in Moyamoya Disease: Clinical Features, Neuroimaging Evaluation, and Treatment.Current neuropharmacology · 2022Review
- Ring finger protein 213 c.14576G>A mutation is not involved in internal carotid artery and middle cerebral artery dysplasia.Scientific reports · 2021Article
- DIAPH1 Variants in Non-East Asian Patients With Sporadic Moyamoya Disease.JAMA neurology · 2021Article
- Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases.The application of clinical genetics · 2021Review
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Authors and funding
9 authors at 5 institutions in 1 country.
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Abstract
backgroundGene polymorphism especially Ring Finger Protein 213 (RNF213) p.R4810K is one of the main cause of moyamoya disease (MMD) in Asian populations, especially among Japanese people. However, missense mutation may not explain the reduced frequency of MMD in Chinese patients. We performed a hospital based case-control study in a Chinese population to elucidate the possible underlying reasons.
methodsFive gene polymorphism loci, namely, rs35692831, rs9916351, rs9913636, rs8074015 and rs112735431, were included. A total of 98 patients and 114 healthy controls were enrolled in the study. Genomic DNA was genotyped by Mass Array methods.
resultsA significant difference was observed between patients and healthy controls in rs9916351, rs9913636, and rs8074015 loci under three genotypes and allelic models (P<0.01). Logistic regression analysis revealed the significant differences under the dominant, recessive and additional model in rs9916351 [odds ratio (OR) =4.173, 95% confidence interval (CI): 2.290-7.606, P<0.001; OR =3.152, 95% CI: 1.585-6.267, P=0.001; OR =0.199, 95% CI: 1.727-3.764, P<0.001; respectively] and rs8074015 (OR =0.359, 95% CI: 0.206-0.627, P<0.001; OR =0.348, 95% CI: 0.148-0.81, P=0.015; OR =0.208, 95% CI: 0.311-0.703, P<0.001; respectively), even adjusting for age and gender. In addition, the haplotype rs9913636-rs8074015 under "GACG" showed significant association with MMD.
conclusionsOur results had revealed the polymorphism of RNF213 rs9916351 and rs8074015 were significantly associated with MMD especially in Chinese population.
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