自闭症谱系障碍(ASD)近来变得越来越普遍。亚甲基四氢叶酸还原酶(MTHFR)在叶酸代谢中具有重要作用。由于MTHFR单核苷酸多态性(SNP)和ASD易感性之间的相关性的不一致和不确定性,进行了荟萃分析以解决不一致之处.
对于此荟萃分析,截至2020年1月26日,共有15份手稿出版,来自PubMed,谷歌学者,Medline,王芳,和CNKI数据库,使用搜索术语“MTHFR”或“亚甲基四氢叶酸还原酶”和“ASD”或“自闭症谱系障碍”或“自闭症”和“多态性”或“易感性”或“C677T”或“A1298C”。
meta分析结果表明,在5种遗传模型中,MTHFRC677T多态性与ASD显著相关,viz.,等位基因,支配,隐性,杂合子,和纯合子。然而,在5种遗传模型中,未发现MTHFRA1298C多态性与ASD显著相关.亚组分析显示ASD与MTHFR(C677T和A1298C)多态性显著相关。敏感性分析表明,该荟萃分析稳定可靠。在五个遗传模型中,MTHFRC677T多态性与ASD之间的关联未发现发表偏倚,除了关于MTHFRA1298C多态性与ASD之间的关联的五个遗传模型。
这项荟萃分析表明,MTHFRC677T多态性是ASD的易感因素,MTHFRA1298C多态性与ASD易感性无关。
Autism spectrum disorder (ASD) is becoming increasingly prevalent of late. Methylenetetrahydrofolate reductase (MTHFR) has a significant role in folate metabolism. Owing to the inconsistencies and inconclusiveness on the association between MTHFR single nucleotide polymorphism (SNP) and ASD susceptibilities, a meta-analysis was conducted to settle the inconsistencies.
For this meta-analysis, a total of 15 manuscripts published up to January 26, 2020, were selected from PubMed, Google Scholar, Medline, WangFang, and CNKI databases using search terms \"MTHFR\" OR \"methylenetetrahydrofolate reductase\" AND \"ASD\" OR \"Autism Spectrum Disorders\" OR \"Autism\" AND \"polymorphism\" OR \"susceptibility\" OR \"C677T\" OR \"A1298C\".
The findings of the meta-analysis indicated that MTHFR C677T polymorphism is remarkably associated with ASD in the five genetic models, viz., allelic, dominant, recessive, heterozygote, and homozygote. However, the MTHFR A1298C polymorphism was not found to be significantly related to ASD in the five genetic models. Subgroup analyses revealed significant associations of ASD with the MTHFR (C677T and A1298C) polymorphism. Sensitivity analysis showed that this meta-analysis was stable and reliable. No publication bias was identified in the associations between MTHFRC677T polymorphisms and ASD in the five genetic models, except for the one with regard to the associations between MTHFRA1298C polymorphisms and ASD in the five genetic models.
This meta-analysis showed that MTHFR C677T polymorphism is a susceptibility factor for ASD, and MTHFR A1298C polymorphism is not associated with ASD susceptibility.