Yadav Upendra, Kumar Pradeep, Yadav Sushil Kumar, Mishra Om Prakash, Rai Vandana
Human Molecular Genetics Laboratory, Department of Biotechnology, VBS Purvanchal University, Jaunpur, 222 003, UP, India.
Metab Brain Dis. 2015 Feb;30(1):7-24. doi: 10.1007/s11011-014-9575-7. Epub 2014 Jul 9.
Epidemiological studies have evaluated the association between maternal methylenetetrahydrofolate reductase (MTHFR) C677T, A1298C and methionine synthase reductase (MTRR) A66G polymorphisms and risk of neural tube defects (NTDs) in offspring. However, the results from the published studies on the association between these three polymorphisms and NTD risk are conflicting. To derive a clearer picture of association between these three maternal polymorphisms and risk of NTD, we performed meta-analysis. A comprehensive search was conducted to identify all case-control studies of maternal MTHFR and MTRR polymorphisms and NTD risk. We used odds ratios (ORs) with 95% confidence intervals (CIs) to assess the strength of the association. Overall, we found that maternal MTHFR C677T polymorphism (OR(TvsC) =1.20; 95% CI = 1.13-1.28) and MTRR A66G polymorphism (OR(GvsA) = 1.21; 95% CI = 0.98-1.49) were risk factors for producing offspring with NTD but maternal MTHFR A1298C polymorphism (OR(CvsA) = 0.91; 95% CI = 0.78-1.07) was not associated with NTD risk. However, in stratified analysis by geographical regions, we found that the maternal C677T polymorphism was significantly associated with the risk of NTD in Asian (OR(TvsC) = 1.43; 95% CI: 1.05-1.94), European (OR(TvsC) = 1.13; 95% CI: 1.04-1.24) and American (OR(TvsC) = 1.26; 95% CI: 1.13-1.41) populations. In conclusion, present meta-analysis supports that the maternal MTHFR C677T and MTRR A66G are polymorphisms contributory to risk for NTD.
流行病学研究评估了母亲亚甲基四氢叶酸还原酶（MTHFR）C677T、A1298C多态性以及甲硫氨酸合酶还原酶（MTRR）A66G多态性与后代神经管缺陷（NTDs）风险之间的关联。然而，已发表的关于这三种多态性与NTD风险之间关联的研究结果相互矛盾。为了更清楚地了解这三种母亲多态性与NTD风险之间的关联，我们进行了荟萃分析。我们进行了全面检索，以确定所有关于母亲MTHFR和MTRR多态性与NTD风险的病例对照研究。我们使用比值比（ORs）及其95%置信区间（CIs）来评估关联强度。总体而言，我们发现母亲MTHFR C677T多态性（OR(TvsC)=1.20；95%CI=1.13 - 1.28）和MTRR A66G多态性（OR(GvsA)=1.21；95%CI=0.98 - 1.49）是生出患有NTD后代的风险因素，但母亲MTHFR A1298C多态性（OR(CvsA)=0.91；95%CI=0.78 - 1.07）与NTD风险无关。然而，在按地理区域进行的分层分析中，我们发现母亲C677T多态性与亚洲（OR(TvsC)=1.43；95%CI：1.05 - 1.94）、欧洲（OR(TvsC)=1.13；95%CI：1.04 - 1.24）和美洲（OR(TvsC)=1.26；95%CI：1.13 - 1.41）人群的NTD风险显著相关。总之，目前的荟萃分析支持母亲MTHFR C677T和MTRR A66G多态性是导致NTD风险的因素。
