Relationship between 5, 10-methylenetetrahydrofolate gene polymorphism and congenital heart disease in nuclear family

Abstract

Objective To study the relationship between C677T polymorphism of 5, 10-methylenetetrahydrofolate (MTHFR) gene and nuclear family with congenital heart disease (CHD). Methods The experimental group composed by 235 nuclear family (fathers, mothers and children) with CHD, the control group comprised by 277 healthy nuclear family.The C677T polymorphism of MTHFR gene were detected with polymerase chain reaction- restriction fragment length polymorphism and DNA sequencing, and the relationship between different types of CHD and genotype frequencies of MTHFR in the experimental group and control group were analyzed.The transmission disequilibrium test and haplotype relative risk test were done in nuclear family with CHD. Results The T677T genotype frequencies of MTHFR gene in children with ventricular septal defect, atrial septal defect, tetralogy of fallot, double outlet right ventricle and patent ductus arteriosus were higher than those in control group(all P 0.05). There were no statistically significant between experimental group-mother and control group in C677T allele frequency of MTHFR gene(all P>0.05). The 677 gene polymorphism of MTHFR in nuclear family with CHD was analyzed with transmission disequilibrium test and haplotype relative risk test, which indicated that the parents transmitted more T allele of MTHFR to their CHD children(P<0.05). Conclusion MTHFR T677T mutations which happened in children with CHD and their mother are related to CHD. Key words: Congenital heart disease; 5, 10-methylenetetrahydrofolate gene; Gene polymorphism