双亲5,10-亚甲基四氢叶酸还原酶基因多态性与子代神经管畸形易感性的关系

目的 定量评价双亲5,10-亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与子代神经管畸形(NTDs)发生的关联性及关联强度,为利用双亲MTHFR 677位点基因型预测和评价子代NTDs的发病风险提供依据.方法 制定原始文献的纳入和排除标准及检索策略.检索中外数据库,收集有关亲代MTHFR基因C677T多态性与NTDs相关性的研究报告,按照MTHFR基因677位点基因型分类,分别整理子代患NTDs的双亲基因型频数数据,应用RevMan5.0软件对各文献进行异质性检验和Meta分析,得出合并后的OR值及其95%CI.结果 共33篇文献符合纳入标准.数据合并结果显示,母亲MTHFR基因677位点TT/CC、CT/CC基因型频率与子代NTDs易感性之间有统计学意义,OR值(95%CI)分别为1.68(1.32～2.14)、1.20(1.07～1.35);父亲MTHFR基因677位点TT/CC、CT/CC基因型频率与子代NTDs易感性有统计学意义,OR值(95%CI)分别为1.38(1.08～1.76)、1.32(1.13～1.55).结论 双亲MTHFR基因C677T多态性均是子代NTDs发病的重要危险因素.

Abstract：

Objective To explore the relationship between 5, 10-methylenetrahydrofolate reeducates gene polymorphism of the parents and the susceptibility to their offspring having neural tube defects. To forecast and evaluate the onset risk of neural tube defects (NTDs) on the basis of 5, 10-methylenetrahydrofolate reeducates (MTHFR) C677T polymorphism on parents of the patients.Methods Electronic search strategy was carried out among the five databases from home and abroad to collect qualified research papers, according to the inclusion and exclusion criteria. Case-control studies on association between MTHFR polymorphism and susceptibility to NTDs were collected and divided into two groups as mothers and fathers. The combined OR values and their 95% CI were calculated with Review Manager 5.0. Results 33 eligible studies were included. Statistics of the combined data showed a significant difference between the mothers with NTDs offspring carrying TT/CC, CT/CC of MTHFR gene C677T and controls. The pooled OR (95%CI) were 1.68 (1.32-2.14)and 1.20 (1.07-1.35) respectively. These was a significant difference between the fathers of the offspring with NTDs that carrying of TT/CC, CT/CC of MTHFR gene C677T and controls. The pooled ORs (95%CI) were 1.38 (1.08-1.76) and 1.32 (1.13-1.55) respectively. Conclusion The results suggested that the paternal and maternal MTHFR gene C677T polymorphism were risk factors to NTDs.

Meta analysis on the association between parental 5, 10-methylenetrahydrofolate reeducates C677T polymorphism and the neural tube defects of their offspring

Objective To explore the relationship between 5, 10-methylenetrahydrofolate reeducates gene polymorphism of the parents and the susceptibility to their offspring having neural tube defects. To forecast and evaluate the onset risk of neural tube defects (NTDs) on the basis of 5, 10-methylenetrahydrofolate reeducates (MTHFR) C677T polymorphism on parents of the patients.Methods Electronic search strategy was carried out among the five databases from home and abroad to collect qualified research papers, according to the inclusion and exclusion criteria. Case-control studies on association between MTHFR polymorphism and susceptibility to NTDs were collected and divided into two groups as mothers and fathers. The combined OR values and their 95% CI were calculated with Review Manager 5.0. Results 33 eligible studies were included. Statistics of the combined data showed a significant difference between the mothers with NTDs offspring carrying TT/CC, CT/CC of MTHFR gene C677T and controls. The pooled OR (95%CI) were 1.68 (1.32-2.14)and 1.20 (1.07-1.35) respectively. These was a significant difference between the fathers of the offspring with NTDs that carrying of TT/CC, CT/CC of MTHFR gene C677T and controls. The pooled ORs (95%CI) were 1.38 (1.08-1.76) and 1.32 (1.13-1.55) respectively. Conclusion The results suggested that the paternal and maternal MTHFR gene C677T polymorphism were risk factors to NTDs.