环指蛋白213基因多态性与中国汉族成人型烟雾病遗传易患性的相关性  

Association between ring finger protein 213 gene polymorphisms and the genetic susceptibility of adult Moyamoya disease in a Han Chinese population

作　　者：王筱萌[1] 黄显军[2] 张治中[1] 刘文华[1] 张敏 孙文[1] 倪冠中[2] 孙文珊[1] 蔡乾昆[1] 周露露[1] 刘新峰[1] 徐格林[1] 

机构地区：[1]南京大学医学院临床学院(南京军区南京总医院)神经内科,210002 [2]皖南医学院附属弋矶山医院神经内科 [3]南京医科大学附属常州第二人民医院神经内科

出　　处：《中华神经科杂志》2013年第4期229-232,共4页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目（81070922）;江苏省自然科学基金资助项目（BK2011021）

摘　　要：目的探讨环指蛋白213（RNF213）基因rsll2735431和rsl38130613两位点多态性与中国汉族成人型烟雾病的遗传易患性的关系。方法从南京卒中注册系统中提取2010年12月至2011年10月经脑血管造影明确诊断的64例成年型烟雾病患者，同时选取96名性别和年龄与烟雾病患者相匹配的健康人作为对照。通过改进的多重连接酶检测反应技术分析RNF213基因rsll2735431和rsl38130613位点的多态性，对各位点基因型、等位基因型频率进行比较分析。结果病例组中rsll2735431位点GA＋AA基因型频率为10．94％（7／64）、GG基因型频率为89．06％（57／64），等位基因A频率为6．25％（8／128）、等位基因G频率为93．75％（120／128）；对照组分别为1．04％（1／96）、98．96％（95／96），0．52％（1／192）、99．48％（191／192），两组间差异具有统计学意义（OR=11．67，95％C／1．40～97．28，P=0．007；OR=12．73，95％CI1．57～103．09，P=0．003）。rs138130613位点的基因型和等位基因频率在两组间差异无统计学意义。结论RNF213基因rsll2735431位点的多态性可能是中国汉族成人型烟雾病患者的易患因子。Objective To explore the association between rs112735431 and rs138130613 polymorphisms of ring finger protein 213 （ RNF213 ） gene and the genetic susceptibility of adult Moyamoya＇ s disease （MMD） in a Han Chinese population. Methods Sixty-four consecutive adult patients with MMD diagnosed by digital subtraction angiography were recruited from Nanjing Stroke Registry Program of Jinling Hospital between December 2010 and October 2011. Ninety-six gender- and age- matched healthy individuals consisted of the control group. All the subjects were Han Chinese in origin. Polymorphisms of rs112735431 and rs138130613 in RNF213 gene were genotyped by the improved multiple ligase detection reaction. Each genotype and allele frequencies were compared between the MMD group and the control group. Results The genotype frequencies of rs112735431 （GA ＋ AA, GG） accounted for 10. 94% （7/64）, 89. 06% （57/64） , and the allele A and G frequency was 6. 25% （8/128）, 93.75% （120/128） in MMD group, and 1.04% （ 1/96 ）, 98.96% （95/96）, 0. 52% （ 1/192 ）, 99.48% （ 191/192 ） in the control group, respectively. There was significant difference between two groups （OR = 11.67,95% CI 1. 40--97. 28 ,P = 0. 007 ; OR = 12. 73,95% CI 1.57--103.09, P = 0. 003 ）. The genotype frequencies of rs138130613 and the allele C and T showed no significant difference between MMD group and the control group. Conclusion Polymorphism of rs112735431 in RNF213 might be a genetic marker for MMD in a Han Chinese population.

关 键 词：脑底异常血管网病 泛素蛋白连接酶类 多态性 单核苷酸 疾病遗传易感性 

分 类 号：R743.3[医药卫生—神经病学与精神病学]