MTHFR基因C677T多态性与儿童孤独症谱系障碍发病风险的Meta分析  

Association between MTHFR gene C677T polymorphism and risk of autism spectrum disorder in children:a Meta-analysis

作　　者：王思思 伍金林 Wang Sisi;Wu Jinlin(Department of Neonatology,Key Laboratory of Birth Defects and Related Diseases of Women and Children,Ministry of Education,West China Second University Hospital,Sichuan University,Chengdu 610041,Sichuan Province,China)

机构地区：[1]四川大学华西第二医院新生儿科、出生缺陷与相关妇儿疾病教育部重点实验室,成都610041

出　　处：《中华妇幼临床医学杂志（电子版）》2021年第2期198-206,共9页Chinese Journal of Obstetrics & Gynecology and Pediatrics(Electronic Edition)

基　　金：四川省科技厅应用基础研究项目(2021YJ0211);四川省卫健委普及应用项目(20PJ070)。

摘　　要：目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与儿童孤独症谱系障碍(ASD)发病风险的相关性。方法计算机检索PubMed、EMbase、Cochrane Library、维普中文科技期刊数据库、中国知网(CNKI)和万方数据知识服务平台,搜集有关MTHFR基因C677T多态性与ASD发病风险的病例对照研究(CCS),检索时限均从建库至2019年6月。由2位研究者独立筛选文献、提取资料并评价纳入研究的偏倚风险后,采用Stata 14.0软件进行Meta分析。结果按照本研究设定的文献检索策略,14篇文献纳入本研究,共计纳入患儿4141例,其中研究组为确诊为孤独症谱系障碍的患儿,共2024例,对照组为未患遗传性或神经性疾病儿童,共2117例。本研究Meta分析结果显示:①MTHFR基因C677T多态性等位基因模型(T vs C)与ASD发病风险有关(OR=1.99,95%CI:1.41~2.79,P<0.001),按研究对象的人群进行进一步分析,结果显示,MTHFR基因C677T多态性等位基因模型(T vs C)在高加索人群与ASD发病风险相关(OR=1.66,95%CI:1.19~2.30,P<0.001),在亚洲人群与ASD发病风险无关(OR=2.31,95%CI:0.93~5.75,P<0.001)。②在纯合子模型(TT vs CC)及杂合子模型(CT vs CC)模型下,MTHFR基因C677T多态性均与ASD发病风险有关(OR=1.65,95%CI:1.12~2.42,P=0.011;OR=1.60,95%CI:1.26~2.02,P<0.001)。结论高加索地区人群MTHFR基因C677T多态性与ASD发病风险有相关性,但是在亚洲人群中,MTHFR基因C677T多态性与ASD发病风险无关。Objective To study to evaluate the association of methylenetetrahydrofolate reductase(MTHFR)gene C677T polymorphism and the risk of autism spectrum disorder(ASD)in children.Methods PubMed,EMbase,Cochrane Library,VIP,China National Knowledge Infrastructure(CNKI)and Wanfang databases were electronically searched to collect case-control(CCS)studies about the association between the MTHFR gene C677T polymorphism and the risk of ASD in children from inception to June 2019.Two reviewers independently screened literature,extracted data and assessed the risk of bias of included studies.The Meta-analysis was performed using Stata 14.0 software.Results According to the literature retrieval strategies of this study,14 pieces of CCS literature(4141 cases)were included in final Meta-analysis,including 2024 cases diagnosed with ASD in study group and 2117 cases with out any genetic or neurological disorders in control group.The results of Meta-analysis showed as the following.①The MTHFR gene C677T polymorphism allele model(T vs C)was associated with risk of ASD in children(OR=1.99,95%CI:1.41-2.79,P<0.001).Further analysis was carried out according to the population of study subjects.The results showed that the MTHFR gene C677T polymorphism allele model(T vs C)was associated with risk of ASD in children in Caucasian(OR=1.66,95%CI:1.19-2.30,P<0.001),was not associated with risk of ASD in children in Asian(OR=2.31,95%CI:0.93-5.75,P<0.001).②In the homozygous model(TT vs CC)and heterozygous model(CT vs CC),MTHFR gene C677T polymorphism was associated with risk of ASD in children(OR=1.65,95%CI:1.12-2.42,P=0.011;OR=1.60,95%CI:1.26-2.02,P<0.001).Conclusions MTHFR gene C677T polymorphism is associated with risk of ASD in children in Caucasian.However,in Asian,MTHFR gene C677T polymorphism is not associated with risk of ASD in children.

关 键 词：亚甲基四氢叶酸还原酶 孤独性障碍 人种群 等位基因 META分析 病例对照研究 儿童 

分 类 号：R749.94[医药卫生—神经病学与精神病学]