MTHFRC677T基因多态性与孤独症谱系障碍遗传易感性的Meta分析.docxVIP

MTHFR C677T基因多态性与孤独症谱系 障碍遗传易感性的Meta分析 李志君孙擎张晶李环 北华大学公共卫生学院吉林医药学院附属医院医务 摘要： 目的采用Meta分析评价亚甲基四氢叶酸还原酶（MTHFR） C677T基因多态性与 儿童孤独症（ASD）遗传易感性之间的关系，为儿童ASD的遗传背景和防治策略 提供循证医学证据。方法 计算机检索Pub Med、Cochrane Library CNKT万 方和屮国生物医学数据库，搜集MTHFR C677T基因多态性与ASD谱系障碍遗传易 感性的相关文献，以病例组和对照组MTHFR C677T基因型分布的OR值及其95%CI 为效应指标。采用Statal2. 0软件进行Meta分析，包括异质性检验、合并效应 量、异质性挖掘以及发表偏倚评价。结果共有14篇文献纳入分析，Meta分析 显示，MTHFR C677T基因多态性与ASD易感性在T等位基因、CTvsCC、TTvsCC、 TT+CTvsCC和TT+CTvsCC模型屮均存在统计学差异。亚组分析显示,TvsC.TTvsCC 和TTvsCT+CC模型在非强制性补充叶酸国家中存在统计学差异;仅TTvsCC和 CTvsCC模型在白种人群中存在统计学差异。累积Meta分析结果显示OR估计值 及可信区间趋于稳定且有较好变化趋势。纳入研究结果稳定性较好，无发表偏 倚。结论MTHFR C677T基因多态性与ASD易感性之间存在明显关联，且T等位 基因可能增加患ASD的风险。 关键词： 亚甲基四氢叶酸还原酶（MTHFR）;孤独症谱系障碍;基因多态性;Meta分析; 作者简介：李志君（1989—），男（汉），助教，硕士. 作者简介：李环（1978—），男（汉），副教授，硕士. 收稿日期：2017-08-23 基金：吉林省卫计委项目（2016J086） Associa tion bet ween MTHFR C677T gene polymorephism and susceptibility to Autism Spectrum Disorders: a meta-analysis LI Zhijun SUN Qing ZHANG Jing LI Huan School of Public Hea1th, Beihua Univeristy; Department of Medical, Affiliated Hospital of Jilin Medical University; Abstract： Objective To explore the association of methylenetetrahy drofolate reductase ( MTHFR) C677 T polymorphism and susceptibi1ity to Austim Spectrum Disorders ( ASD) by meta-analysis and provide proof of evidence-based medicine for the genetic bacaground of ASD. Met hods Pubmccl, Cochrane Library, CNKI, Wanfang Database and CBM were used to search all the relavant literatures on the relationship between MTHFR C677 T polymorphism and ASD. The values of OR and 95% CT were used to estimate the effect indicator. Stata 12. 0 software was used for metaanalysis, including heterogeneity test, effect merging, digging of hctcrogeneity, cumulative meta-analysis and evaluation on publication bias. ResuIts A total of 14 studies were included in the analysis. There were significant association in al 1 genetic models. Subgroup analysis showed that TvsC, TTvsCC and TTvsCT + CC models had a significant association in non-mandatory fortification with