Correlation between RNF213 gene p. R4810K polymorphism and posterior cerebral artery involvement in Chinese children with familial moyamoya disease / 国际脑血管病杂志

ABSTRACT

Objective:To investigate the correlation between RNF213 gene p. R4810K polymorphism and posterior cerebral artery involvement in Chinese children with familial moyamoya disease.Methods:Children with familial moyamoya disease admitted to the Department of Neurosurgery, the Fifth Medical Center of PLA General Hospital from August 2004 to June 2018 were enrolled, and they were divided into posterior cerebral artery involved group and posterior cerebral artery uninvolved group. RNF213 gene p. R4810K single nucleotide polymorphism was detected. Multivariate logistic regression analysis was used to determine the independent risk factors for posterior cerebral artery involvement. Results:A total of 65 children with familial moyamoya disease were enrolled. Their age was 6.98±4.46 years and 37 (56.9%) were male. The first symptom of 55 children (84.6%) was cerebral ischemia, and 37 (56.9%) involved posterior cerebral artery. There were 3 (4.6%) children with p. R4810K AA genotype, 26 (40.0%) with GA genotype, and 36 (55.4%) with GG genotype. The p. R4810K genotype distribution in the posterior cerebral artery involved group was statistically different from that in the uninvolved group (GA+ AA genotype 56.8% vs. 28.6%; χ2=5.124, P=0.024), and there were no statistical difference in gender, age, first symptom, and genetic pattern. Multivariate logistic regression analysis showed that after adjusting the first onset age and gender, p. R4810K G>A mutation was the only independent risk factor for posterior cerebral artery involvement (odds ratio 3.240, 95% confidence interval 1.082-9.705; P=0.020). Conclusion:The p. R4810K polymorphism of RNF213 gene is associated with posterior cerebral artery involvement in Chinese children with familial moyamoya disease.