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The research of the role of gene polymorphisms in the metabolic pathways of homocysteine-methionine and folic acid in congenital malformations is very important because its effect could be modulated. Objetive: The aim of this study was to determine whether the C677T polymorphism in the gene of the enzyme methylenetetrahydrofolate reductase (MTHFR) was associated with the development of isolated congenital heart disease. Methodology: We compared the allele and genotype frequencies of this polymorphism in 34 infants with isolated congenital heart defects and 102 healthy individuals. Genotyping was performed by Polymerase Chain Reaction (PCR) and with the technique Restriction Fragment Length Polymorphism (RFLP). Results: There were no statistically significant differences in allele or genotype frequencies between case and control groups. Although our results show no statistically significant differences between the groups assessed there was a statistical trend for a possible protective effect of TT genotype against the development of congenital heart disease.

Estudio del polimorfismo MTHFR C677T en recién nacidos con cardiopatías congénitas aisladas, en una población colombiana