RNF213基因p.R4810K多态性与中国儿童家族性烟雾病患者大脑后动脉受累的相关性  

Correlation between RNF213 gene p.R4810K polymorphism and posterior cerebral artery involvement in Chinese children with familial moyamoya disease

作　　者：郝方斌 卫玲[3] 邹正兴 韩聪 暴向阳 汪汇 杨日淼 李德生 杨伟中 张茜 汪凯[3] 张正善 段炼 Hao Fangbin;Wei Ling;Zou Zhengxing;Han Cong;Bao Xiangyang;Wang Hui;Yang Rimiao;Li Desheng;Yang Weizhong;Zhang Qian;Wang Kai;Zhang Zhengshan;Duan Lian(Institute of Military Medicine,Academy of Military Sciences,Beijing 100850,China;Department of Neurosurgery,the Fifth Medical Center of PLA General Hospital,Beijing 100071,China;Department of Neuroloy,the First Affiliated Hospital of Anhui Medical University,Hefei 230022,China)

机构地区：[1]军事科学院军事医学研究院,北京100850 [2]解放军总医院第五医学中心神经外科,北京100071 [3]安徽医科大学第一附属医院神经内科,合肥230022

出　　处：《国际脑血管病杂志》2020年第3期191-195,共5页International Journal of Cerebrovascular Diseases

基　　金：国家自然科学基金(81571136);首都临床特色应用研究(Z171100001017144)。

摘　　要：目的探讨RNF213基因p.R4810K多态性与中国儿童家族性烟雾病患者大脑后动脉受累的相关性。方法纳入解放军总医院第五医学中心神经外科在2004年8月至2018年6月收治的儿童家族性烟雾病患者,并分为大脑后动脉受累组和大脑后动脉未受累组。检测RNF213基因p.R4810K单核苷酸多态性。通过多变量logistic回归分析确定大脑后动脉受累的独立危险因素。结果共纳入65例家族性烟雾病患者,年龄(6.98±4.46)岁,男性37例(56.9%)。55例(84.6%)首发症状表现为脑缺血,37例(56.9%)累及大脑后动脉。RNF213基因p.R4810K AA基因型3例(4.6%),GA基因型26例(40.0%),GG基因型36例(55.4%)。大脑后动脉受累组p.R4810K基因型分布与未受累组患者存在统计学差异(GA+AA基因型比例:56.8%对28.6%;χ^2=5.124,P=0.024),而在性别、年龄、首发症状和遗传模式方面均无统计学差异。多变量logistic回归分析显示,校正首发年龄和性别后,p.R4810K G>A突变是大脑后动脉受累的唯一独立危险因素(优势比3.240,95%可信区间1.082~9.705;P=0.020)。结论RNF213基因p.R4810K多态性与中国儿童家族性烟雾病患者大脑后动脉受累相关。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%;χ^2=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.

关 键 词：烟雾病 锌指 多态现象 单核苷酸 大脑后动脉 儿童 

分 类 号：R74[医药卫生—神经病学与精神病学]