Polymorphism of the methylenetetrahydrofolate reductase gene in mothers with offspring affected by folate-sensitive birth defects
Keywords:
congenital defects, folic acid, folate-sensitive neural tube defects, genetic polymorphism, genetic association studies.Abstract
Introduction: The origin of congenital defects is influenced by environmental factors, such as folic acid intake deficit, and genetic factors, such as gene polymorphisms.
Objectives: To find the relation between the maternal C677T polymorphism of the methylenetetrahydrofolate reductase gene and the appearance of folate-sensitive congenital defects in the offspring.
Methods: A population-based observational case-control analytical study was performed. Ninety mothers with offsprings affected by five types of folate-sensitive congenital defects between 2013 and 2018 in Villa Clara province were included. They underwent genotyping of the C677T polymorphism of the methylenetetra gene.
Results: The frequency of the homozygous TT genotype was 0.14 and 0.06 in the mothers of affected cases and those of the control group, respectively. An association between maternal polymorphism polymorphism and congenital defects in the offspring, in the codominance model and the recessive model.
Conclusions: The higher frequency of the TT homozygous genotype, in mothers with affected offspring, is related to the decrease described for methylenetetrahydrofolate reductase enzyme activity in this genotype.
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