The association of the RNF213 p.R4810K polymorphism with quasi-moyamoya disease and a review of the pertinent literature.

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The association of the RNF213 p.R4810K polymorphism with quasi-moyamoya disease and a review of the pertinent literature.

World Neurosurg. 2017 Jan 04;:

Authors: Zhang Q, Liu Y, Yu L, Duan R, Ma Y, Ge P, Zhang D, Zhang Y, Wang R, Wang S, Zhao Y, Cao Y, Liu X, Deng X, Zhao J, Zhang X

Abstract
BACKGROUND: Quasi-moyamoya disease (MMD) is characterized by moyamoya vasculopathy and well recognized comorbidity. Whether the recently identified MMD susceptibility gene variant, p.R4810K (rs112735431), is associated with quasi-MMD remains unclear.
METHODS: This study was a 2-hospital-based case-control study that was conducted in the neurosurgical departments of Beijing Tiantan Hospital and Peking University International Hospital. A total of 42 patients and 161 controls were enrolled. The p.R4810K polymorphism was assessed using Sanger sequencing. A review of the pertinent literature on the p.R4810K polymorphism and quasi-MMD was performed.
RESULTS: The mean age of patients at diagnosis was 34.9±16.5 years with a one-peak distribution in the forties; 57.1% of the patients were female. The p.R4810K heterozygous variant was identified in 5 patients, including 3 patients with atherosclerosis, 1 patient with Graves' disease and 1 patient with rheumatoid arthritis; it was also observed in one control. The frequencies of the A allele and the G/A genotype of rs112735431 (p.R4810K) were significantly higher in the quasi-MMD patients than in the control groups (5.95% vs. 0.31%, OR = 20.316, P=0.002; 11.9% vs. 0.6%, OR=21.622, P= 0.002, respectively). In the subgroup analysis, the rs112735431 G/A genotype was significantly associated with arteriosclerotic or autoimmune quasi-MMD (P=0.006, OR = 25.263, CL: 2.501-255.175; P=0.015, OR = 29.091, CL: 2.444-346.334, respectively).
CONCLUSIONS: The p.R4810K variant was associated with atherosclerotic and autoimmune quasi-MMD in a Chinese population, and a lower prevalence of this variant in quasi-MMD patients compared to MMD patients was observed.

PMID: 28063898 [PubMed - as supplied by publisher]

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