脑源性神经营养因子基因单核苷酸多态性位点G196A、C270T与癫痫的相关性研究  

The analysis of two Brain-Derived Neurotrophic Factor polymorphisms G196A and C270T in epilepsy

作　　者：徐连萍 李承玉 王群[1,2] XU Lianping1＇ 2, LI Chengyu1＇ 2, WANG Qun1＇ 2(1. Department of Neurology, Beijing Tiantan HospitalCapital Medical University, Beijing 100050, China 2. China National Clinical Research Center for Neurological Diseases, Beijing 100050, Chin)

机构地区：[1]首都医科大学附属北京天坛医院神经病学中心,北京100050 [2]国家神经系统疾病临床研究中心,北京100050

出　　处：《癫痫杂志》2018年第2期98-105,共8页Journal of Epilepsy

基　　金：首都卫生发展科研专项(2016-1-2011)

摘　　要：目的采用Meta分析的方法探讨脑源性神经营养因子(Brain-derived neurotrophic factor,BDNF)基因单核苷酸多态性位点G196A、C270T与癫痫的相关性。方法检索美国国立医学图书馆Pub Med数据库、荷兰医学文摘EMbase数据库、Cochrane临床试验数据库、中国知网CNKI和万方数据库,查找从建库至2017年9月有关BDNF基因单核苷酸多态性位点G196A、C270T与癫痫的病例对照研究。由两名研究人员独立筛选文献、提取资料和评价质量后,采用Rev Man 5.2软件进行Meta分析。结果第一,BDNF基因G196A位点与癫痫相关性Meta分析,纳入9个病例对照研究,共1 841例癫痫患者,6 467名健康对照者。对纳入的所有研究进行Meta分析结果显示:G等位基因可增加癫痫的患病风险[OR=1.13,95%CI(1.06,1.21),P=0.0 001]。GG+GA/AA、GG/GA+AA、GG/AA基因型模式在病例组和对照组的分布均具有统计学差异(P均>0.05)。按种族(亚洲、欧美)分亚组进行Meta分析,结果显示G等位基因增加亚洲癫痫的患病风险[OR=1.13,95%CI(1.05,1.20),P=0.0 004],但不增加欧美癫痫的患病风险[OR=1.29,95%CI(0.94,1.78),P=0.12]。BDNF基因G196A位点与颞叶癫痫Meta分析,结果显示G等位基因增加颞叶癫痫的患病风险[OR=1.18,95%CI(1.04,1.34),P=0.008]。第二,BDNF基因C270T位点与癫痫相关性的Meta分析:纳入4个病例对照研究,594例癫痫患者,738名对照。分析结果显示C270T位点不同等位基因、不同基因型模式(TT+TC/CC、TT/TC+CC TT/CC)与癫痫没有相关性。结论 BDNF基因G196A位点与亚洲癫痫具有相关性,且G等位基因是风险等位基因。BDNF基因的C270T位点与癫痫无相关性。Objective To investigate the relationship between the G196A and C270T polymorphism and epilepsy. Methods Database including PubMed, EMbase, the Cochrane Library, CNKI and Wan fang data were retrieved upto September, 2017 to collect the case-control study concerning BDNF two polymorphisms G196A/C270T and epilepsy. Two reviewers independently screened the literature, extracted the data, and assessed the quality of methodology. Then Meta- analysis was performed using RevMan 5.2 software. Results A total of 9 studies were included in the Meta-analysis between BDNF G196A and epilepsy. The studies included 1841 epilepsy patients and 6467 healthy control subjects. The G allele increase the risk of epilepsy[OR=l.13, 95%CI （1.06-1.21）, P=0.0001]. When stratified by Asian and western subgroup, a similar trend of associated was detected with Asian epilepsy patients [OR=I. 13, 95%CI （1.05-1.20）, P=0.0004]. When stratified by epilepsy type, the G allele increase the risk of temporal lobe epilepsy [OR=1.18, 95%CI （1.04-1.34）, P=0.008]. The Meta-analysis between BDNF C270T and epilepsy included 4 studies, 594 epilepsy patients and 738 healthy control sub）ects. The result suggested the frequency of the CT genotype and of the C270T T allele was not associated withepilepsy. Conclusions BDNF G196A polymorphism is a susceptibility locus for temporal lobe epilepsy and Asian epilepsy patients.

关 键 词：癫痫 单核苷酸多态性 易感基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]