中国循证医学杂志

中国循证医学杂志

MTHFD1 基因 G1958A 多态性与神经管缺陷易感性的 Meta 分析

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目的 系统评价双亲及子代亚甲基四氢叶酸脱氢酶(MTHFD1)基因 G1958A 多态性与神经管缺陷(NTDs)发病风险的相关性。 方法 计算机检索 The Cochrane Library、PubMed、Web of Science、CNKI、VIP 和 WanFang Data 数据库,搜集MTHFD1 基因 G1958A 多态性与 NTDs 发病风险的相关性的病例-对照研究,检索时间均为建库至 2016 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 12.0 软件进行 Meta 分析。 结果 共纳入 13 个病例-对照研究,包括 1 724 例 NTDs 患儿、1 485 例 NTDs 患儿母亲和 774 例患儿父亲。Meta 分析结果显示,患儿MTHFD1 基因 G1958A 多态性与 NTDs 发病风险增加有相关性[AAvs. GG:OR=1.437,95%CI(1.100,1.878),P=0.008;AA+AGvs. GG:OR=1.187,95%CI(1.031,1.367),P=0.017;Avs. G:OR=1.210,95%CI(1.050,1.394),P=0.008]。而母亲和父亲MTHFD1 基因 G1958A 多态性与子代 NTDs 易感性无相关性。 结论 患儿MTHFD1 基因 G1958A 多态性是 NTDs 的发病风险因素之一。受纳入研究数量和质量限制,上述结论尚需展开更多的高质量研究予以验证。

Objective To evaluate associations betweenMTHFD1 gene G1958A polymorphism and the risk of neural tube defects (NTDs). Methods We electronically searched databases including PubMed, The Cochrane Library, Web of Science, CNKI, VIP, and WanFang Data from inception to June 2016 to collect case-control studies of the correlation between the G1958A polymorphism inMTHFD1 and the risk of NTDs. Two reviewers independently screened the studies, extracted data and assessed the risk of bias of included studies, and then, meta-analysis was performed using Stata 12.0 software. Results Thirteen case-control studies were included, involving 1 724 NTDs infants, 1 485 mothers and 774 fathers with NTDs offspring. The results of meta-analysis showed that there was significant association betweenMTHFD1 gene G1958A polymorphism and increased risk of NTDs in infants (AAvs. GG: OR=1.437, 95%CI 1.100 to 1.878,P=0.008; AA+AGvs. GG: OR=1.187, 95%CI 1.031 to 1.367,P=0.017; Avs. G: OR=1.210, 95%CI 1.050 to 1.394,P=0.008). However, there was no association between biparentalMTHFD1 gene G1958A polymorphism and NTDs in the offspring. Conclusion The current evidence shows thatMTHFD1 gene G1958A polymorphism may be a genetic risk factor for NTDs. Due to the limited quantity and quality of the included studies, more high quality studies are needed to verify the above conclusion.

关键词: 神经管缺陷; 亚甲基四氢叶酸脱氢酶(MTHFD1; 基因多态性; Meta 分析

Key words: neural tube defects; methylenetetrahydrofolate dehydrogenase; gene polymorphism; meta-analysis

引用本文: 方玉莲, 张瑞苹, 支秀芳, 曹丽荣, 王懿征, 蔡春泉. MTHFD1 基因 G1958A 多态性与神经管缺陷易感性的 Meta 分析 . 中国循证医学杂志, 2017, 17(4): 395-401. doi: 10.7507/1672-2531.201612098 复制

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