Association between MTHFR C677T variant and risk for congenital heart defects in Egyptian children: a case–control study including meta-analysis based on 147 cases and 143 controls

Abstract

AbstractBackgroundStratification analysis studies showed that ethnicity has a significant association regardingMTHFRC677T variant and congenital heart diseases (CHDs) risk, and many published studies have controversial conclusions toward this association.MethodsIn this study, the association between theMTHFRC677T variant and the risk for CHDs was evaluated in 91 children with CHD and 95 healthy controls, as new cases, by using restriction fragment length polymorphism (RFLP) technique. Besides that, 2 case–control studies in the Egyptian population published before 2021 were included in this meta-analysis. The association was assessed by the odds ratio (OR) with a 95% confidence interval (CI) based on 294 alleles in CHD cases and 286 alleles in controls.ResultsThe overall meta-analysis showed a significant association betweenMTHFRC677T variant and CHDs risk in Egyptian children with heterogeneity (Heterogeneity = 0.001) in all the genetic models with the highly significant association in T versus C allele (pooled OR 1.89, 95% CI 1.31–2.74;pvalue < 0.0004). The consistency of the genotypes was detected by Hardy–Weinberg equilibrium (HWE).ConclusionsOur results support theMTHFR-677T allele as a susceptibility factor for CHDs in the Egyptian pediatric patients.