Maternal MTHFR A1298C polymorphism and risk of congenital heart disease in fetus

Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism, DNA synthesis and methylation. A number of studies have examined the association of maternal MTHFR A1298C polymorphism with congenital heart disease (CHD) susceptibility; however, the conclusions were contradictory. To clarify the influence of maternal MTHFR A1298C polymorphism on CHD, a meta-analysis of seventeen case- control studies was carried out. Four electronic databases - Pubmed, Google Scholars, Elsevier and Springer Link were searched upto June, 2018 for suitable articles. The pooled odds ratios (ORs) with 95% confidence intervals (95% CIs) were used to evaluate the association. Meta-analysis was performed by Mix and MetaAnalyst programs. The results of meta-analysis suggested that except co-dominant model, maternal A1298C polymorphism is risk for CHD in fetus using overall comparisons in four genetic models (C vs. A: OR= 1.19, 95% CI= 1.00-1.41, p= 0.04; CC+AC vs. AA: OR= 1.19, 95% CI= 0.97-1.4, p= 0.04; CC vs. AA: OR= 1.46, 95% CI= 1.00-2.13, p= 0.04; AC vs. AA OR= 1.13, 95% CI=0.93-1.36, p= 0.23; CC vs. AC+AA: OR=1.34, 95% CI=1.1-1.6, p=0.01). Publication bias was absent using four genetic models. In conclusion, results of present meta-analysis showed significant association between maternal MTHFR A1298C polymorphism and CHD risk.