亚甲基四氢叶酸脱氢酶G1958A多态性与神经管缺陷易感性的meta分析

摘要

目的 系统评价亚甲基四氢叶酸脱氢酶(MTHFD)G1958A 多态性与神经管缺陷(NTD)发生易感性的相关性.方法检索中国生物医学文献数据库、中文科技期刊数据库、中国期刊全文数据库、万方数据库和PubMed、Web of Science外文数据库,查找已发表的相关文献.采用meta 分析方法,对MTHFD G1958A 基因多态性与NTD 的研究文献进行综合定量分析.结果 共有6 篇文献符合入选标准,涉及348 例患儿,1 061 例对照;768 例NTD 母亲,1 974 例对照.meta 分析显示,MTHFD G1958A 位点GG 对 GA/AA,GG/GA 对 AA,GG 对 AA,GA 对 AA 各遗传模型中儿童发生NTD 危险度的差异无统计学意义,OR(95%CI)分别为0.77(0.58~1.02),0.96(0.71~1.30),0.81(0.56~1.16),1.07(0.78~1.47).携带MTHFD基因GA 基因型和GG/GA 基因型母亲相对AA 基因型母亲,其子代发生NTD 的OR 分别为0.73(95%CI:0.50~0.88)和0.68(95%CI:0.55~0.83).结论 母亲MTHFD 基因G1958A 多态性是子代发生NTD 的危险因素之一.%Objective To evaluate the relationship between methylenetetrahydrofolate dehydrogenase (MTHFD) G1958A polymorphism and the susceptibility to neural tube defects (NTD). Methods The relative literatures were identified by search of the databases of China Biology Medical Literature Database (CBM), Database of Chinese Scientific and Technical Periodicals (VIP), China National Knowledge Infrastructure (CNKI), Wanfang database, MEDLINE, EMBASE and Cochrane Library. A comprehensive quantitative analysis of the relationship between MTHFD G1958A and NTD was performed by meta-analysis. Results Six studies met our inclusion criteria. In the studies, there were 348 pediatric cases and 1061 controls, and 768 mothers of NTD children and 1974 controls. This meta-analysis showed that there was no relationship between the MTHFD G1958A polymorphism in patients and the risk of NTD in genotypes GG vs GA/AA, GG/GA vs AA, GG vs AA, GA vs AA. The pooled OR values and 95%CI were 0.77 (0.58-1.02), 0.96 (0.71-1.30), 0.81 (0.56-1.16), 1.07(0.78-1.47), respectively. Compared with the mothers with AA genotype, the women with GA genotype and GG/GA genotype had an increased risk of NTD in their offspring, with OR values and 95%CI at 0.73 (0.60-0.88) and 0.68 (0.55-0.83) respectively. Conclusions Maternal MTHFD G1958A polymorphism is a risk factor for NTD in progeny.