MTHFR C677T基因多态性与孤独症谱系障碍遗传易感性的Meta分析

Association between MTHFR C677T gene polymorephism and susceptibility to Autism Spectrum Disorders: a meta-analysis

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、CNKI、万方和中国生物医学数据库,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Stata12.0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模型中均存在统计学差异。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。

Objective To explore the association of methylenetetrahy drofolate reductase（ MTHFR） C677 T polymorphism and susceptibility to Austim Spectrum Disorders（ ASD） by meta-analysis and provide proof of evidence-based medicine for the genetic bacaground of ASD. Methods Pubmed,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% CI were used to estimate the effect indicator. Stata 12. 0 software was used for metaanalysis,including heterogeneity test,effect merging,digging of heterogeneity,cumulative meta-analysis and evaluation on publication bias. Results A total of 14 studies were included in the analysis. There were significant association in all genetic models. Subgroup analysis showed that TvsC,TTvsCC and TTvsCT ＋ CC models had a significant association in non-mandatory fortification with folate of countries. TTvsCC and CTvsCC models had a significant associations in caucasian populations. Cumulative meta-analysis results showed estimates of OR and confidence interval tend to be more stable and has good change trend. All results were stability and no publication bias. Conclusion There are association between MTHFR C677 T polymorphism and susceptibility to ASD,and the T allele may increase the risk of ASD.