ABSTRACT
Objective Using meta-analysis to assess the association between maternal 5,10-methylenetetrahydrofolate reductase (MTHFR) gene C677T polymorphism and the risk of offspring congenital heart defect (CHD) in Chinese population.Method PubMed,Embase,Web of science,Chinese Biomedical Literature Database,Chinese Science and Technology Academic Journal,Chinese Journal Full-text Database and Wanfang database were searched extensively from since their inception to January 2017 for relevant case-control studies.Odds ratio (OR) of MTHFR C677T genotype distributions in patients with CHD and healthy controls was calculated.Pooled OR calculation was analyzed by revMan 5.3software.Result A meta-analysis of nine case-control studies included 1 221 cases and 1 108 controls.There was association between maternal MTHFR gene C677T and the CHD of offspring and the pooled OR (95 ％ CI) of maternal TT/TC,TT/CC,TC/CC,TT/TC + CC and TT + TC/CC were 1.85 (95 ％ CI 1.50 ～2.28),2.33 (95％CI 1.81 ～3.00),1.24 (95％CI 1.00 ～ 1.54),2.00 (95％ CI 1.64 ～2.44) and 1.55 (95 ％ CI 1.27 ～ 1.89) (P ＜ 0.05),respectively.Conclusion There was association between maternal MTHFR C677T polymorphism and risk of offspring CHD in the Chinese population.