中华神经科杂志
中華神經科雜誌
중화신경과잡지
Chinese Journal of Neurology
2013年
4期
229-232
,共4页
王筱萌%黄显军%张治中%刘文华%张敏%孙文%倪冠中%孙文珊%蔡乾昆
王篠萌%黃顯軍%張治中%劉文華%張敏%孫文%倪冠中%孫文珊%蔡乾昆
왕소맹%황현군%장치중%류문화%장민%손문%예관중%손문산%채건곤
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
腦底異常血管網病%汎素蛋白連接酶類%多態性,單覈苷痠%疾病遺傳易感性
뇌저이상혈관망병%범소단백련접매류%다태성,단핵감산%질병유전역감성
Moyamoya disease%Ubiquitin-protein ligases%Polymorphism,single nucleotide%Genetic predisposition to disease
目的 探讨环指蛋白213(RNF213)基因rs112735431和rs138130613两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rs112735431和rs138130613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rs112735431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％ CI 1.40 ～97.28,P =0.007;OR=12.73,95％ CI 1.57 ～ 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rs112735431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.
目的 探討環指蛋白213(RNF213)基因rs112735431和rs138130613兩位點多態性與中國漢族成人型煙霧病的遺傳易患性的關繫.方法 從南京卒中註冊繫統中提取2010年12月至2011年10月經腦血管造影明確診斷的64例成年型煙霧病患者,同時選取96名性彆和年齡與煙霧病患者相匹配的健康人作為對照.通過改進的多重連接酶檢測反應技術分析RNF213基因rs112735431和rs138130613位點的多態性,對各位點基因型、等位基因型頻率進行比較分析.結果 病例組中rs112735431位點GA+AA基因型頻率為10.94％(7/64)、GG基因型頻率為89.06％(57/64),等位基因A頻率為6.25％ (8/128)、等位基因G頻率為93.75％ (120/128)；對照組分彆為1.04％(1/96)、98.96％(95/96),0.52％ (1/192)、99.48％ (191/192),兩組間差異具有統計學意義(OR=11.67,95％ CI 1.40 ～97.28,P =0.007;OR=12.73,95％ CI 1.57 ～ 103.09,P=0.003).rs138130613位點的基因型和等位基因頻率在兩組間差異無統計學意義.結論 RNF213基因rs112735431位點的多態性可能是中國漢族成人型煙霧病患者的易患因子.
목적 탐토배지단백213(RNF213)기인rs112735431화rs138130613량위점다태성여중국한족성인형연무병적유전역환성적관계.방법 종남경졸중주책계통중제취2010년12월지2011년10월경뇌혈관조영명학진단적64례성년형연무병환자,동시선취96명성별화년령여연무병환자상필배적건강인작위대조.통과개진적다중련접매검측반응기술분석RNF213기인rs112735431화rs138130613위점적다태성,대각위점기인형、등위기인형빈솔진행비교분석.결과 병례조중rs112735431위점GA+AA기인형빈솔위10.94％(7/64)、GG기인형빈솔위89.06％(57/64),등위기인A빈솔위6.25％ (8/128)、등위기인G빈솔위93.75％ (120/128)；대조조분별위1.04％(1/96)、98.96％(95/96),0.52％ (1/192)、99.48％ (191/192),량조간차이구유통계학의의(OR=11.67,95％ CI 1.40 ～97.28,P =0.007;OR=12.73,95％ CI 1.57 ～ 103.09,P=0.003).rs138130613위점적기인형화등위기인빈솔재량조간차이무통계학의의.결론 RNF213기인rs112735431위점적다태성가능시중국한족성인형연무병환자적역환인자.
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％ Cl 1.40-7.28,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.
