Association between MTHFR and GSTP1 Polymorphisms and Ventricular Septal Defect in Iranian Subjects

Ventricular septal defect (VSD) known as one of the most prevalent types of congenital heart defects (CHD). Both genetic and environmental risk factors are essential in its development. Methylenetetrahydrofolate reductase (MTHFR) is one of the fundamental regulatory enzymes in the homocysteine metabolic pathway, and related coding genes may play a crucial role in CHDs. GSTP1 genotypes codes Glutathione S-transferases (GSTs) play an essential role in detoxification and may increase the risk of DNA damage elicited by pesticide exposure. This study determined the association of C677T and G1793A polymorphisms of the MTHFR gene and polymorphism of the GSTP1 gene in Iranian VSD subjects. A total of 98 children with VSDs and 89 healthy children were entered in this study. Genomic DNA was extracted from the blood samples of all the cases. The restriction fragment length polymorphism polymerase chain reaction (PCR-RFLP) method amplifies the C677T and G1793A and GSTP1 polymorphism. The genotype frequencies of CC, CT, and TT of MTFHR C677T gene among the studied cases were 59 Percentage, 33 Percentage, and 7 Percentage, respectively, compared to 58.5 Percentage, 38 Percentage, and 3.5 Percentage controls. The genotype frequencies of GG, GA, and AA of MTFHR G1793A gene among the studied cases were 97 Percentage, 0 Percentage, and 0 Percentage, respectively, compared to 93 Percentage, 7 Percentage, and 0 Percentage controls. For the GSTP1 gene polymorphism, the frequencies of the genotypes of AA, AG, and GG among the cases were 42 Percentage, 51 Percentage, and 3 Percentage, respectively, while the frequencies were 40 Percentage, 49 Percentage, and 11 Percentage, respectively, among control subjects. Significant differences were noticed (p less than 0.05) in AA VS. AG genotype between cases and control subjects.