MTHFR C677T基因多态性与孤独症谱系障碍易感性关系的Meta分析

Meta-analysis of the relationship between MTHFR C677T gene polymorphism and susceptibility to autism spectrum disorders

目的探讨亚甲基四氢叶酸还原酶(MTHFR)基因多态性与孤独症谱系障碍(ASD)易感性的关系。方法检索中国知网、万方数据、PubMed、Embase、Proquest、Web of science等数据库,收集MTHFR C677T基因多态性与ASD关联的病例对照研究,检索时间至2020年6月30日。应用Stata 14.0软件进行Meta分析。结果共纳入16篇文献,其中病例组2149例,对照组2251例。Meta分析结果显示在等位基因模型(T vs.C,OR=1.51,95%CI:1.15~1.99,P=0.003)、显性模型(TT+CT vs.CC,OR=1.67,95%CI:1.21~2.29,P=0.002)中,MTHFR C677T多态性与ASD发生具有相关性。而在隐性模型(TT vs.CT+CC,OR=1.20,95%CI:0.82~1.76,P=0.340)和纯合子模型(TT vs.CC,OR=1.43,95%CI:0.92~2.22,P=0.113)中MTHFR C677T多态性与ASD易感性无关。种族亚组分析显示,高加索人MTHFR C677T多态性仅在显性模型(OR=1.30,95%CI:1.04~1.63,P=0.024)中与ASD发生相关,而亚洲人在等位基因模型(OR=1.85,95%CI:1.13~3.01,P=0.014)和显性模型(OR=1.99,95%CI:1.18~3.36,P=0.010)中和ASD发病有关。结论MTHFR C677T基因多态性与ASD易感性相关。

Objective To investigate the relationship between methylenetetrahydrofolate reductase(MTHFR)gene polymorphism and susceptibility to autism spectrum disorders(ASD).Methods The relevant studies on MTHFR gene C677T polymorphism and susceptibility to ASD databases until June 30,2020 were searched in databases of CNKI,Wanfang data,PubMed,Embase,Proquest and Web.Meta-analysis was conducted by using STATA 14.0.Results A total of 16 articles were included,including 2149 cases in the case group and 2251 cases in the control group.Meta-analysis showed that MTHFR C677T polymorphism was significantly associated with an increased risk of autism in the allelic model(T vs.C,OR=1.51,95%CI:1.15-1.99,P=0.003)and dominant genetic model(TT+CT vs.CC,OR=1.67,95%CI:1.21-2.29,P=0.002).Analysis of ethnic subgroups showed that the MTHFR C677T polymorphism of Caucasians was closely related to the occurrence of autism only in the dominant genetic genotype(OR=1.30,95%CI:1.04-1.63,P=0.024),while the Asians were related in both the allelic model(OR=1.85,95%CI:1.13-3.01,P=0.014)and the dominant genetic model(OR=1.99,95%CI:1.18-3.36,P=0.010).Conclusion The MTHFR C677T gene polymorphism is significantly associated with the susceptibility to ASD.