Association between 5,10-methylenetetrahydrofolate, gene polymorphism and congenital heart disease.

This article is to investigate the association between C677T polymorphism of 5, 10-methylenetetrahydrofolate (MTHFR) gene and congenital heart defects (CHD). Two hundred thirty-five nuclear families (father, mother and child) with CHD were enrolled in the study (experimental group), and two hundred thirty-five healthy nuclear families were selected as a control group. Under the case-control study, the C677T polymorphism of MTHFR gene was detected with polymerase chain reaction-restriction fragment length polymorphism and DNA sequencing. The distribution of genotype frequency in the CHD group and control group were analyzed. SPSS 13.0 software was used to analyze the data. The distribution of genotype frequency at C677T polymorphism site was significantly different between the CHD group (including ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle, patent ductus arteriosus) (child and mother) and healthy control group (child and mother). There were no differences between CHD group-fathers and healthy control group-fathers. Analyses of the MTHFR genotypes of CHD nuclear family data with transmitted disequilibrium test (TDT) and haplotype-based haplotype relative risk statistical method both revealed significant indications that the parents transmitted more T allele of MTHFR to their CHD children. TT genotype of MTHFR gene is associated with CHD, and a mother or a child with T allele has a much higher risk of CHD.