Universidad Colegio Mayor Nuestra Señora del Rosario
Abstract
Introduction: the 5, 10-methylenetetrahydrofolate reductase (MTHFR) is an essential enzyme in folate metabolism; their polymorphisms have been associated with heart disease risk increase, obstetric problems,neural tube defects in fetuses and cancer susceptibility. This genehas a single nucleotide polymorphism, a C-T change at nucleotide 677, which affects significantly its enzymatic activity. Objective: because of the biological importance of this enzyme and the Colombian population genetic heterogeneity characteristic, a study was performed to determine allele and genotype frequencies of MTHFR C677Tpolymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved casecontrol methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population.Additionally, Colombian overall frequencies were calculated, usingdata from healthy controls reported in other studies. Results: aHardy-Weinberg disequilibrium was found in the sample tested. For theColombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to beunder positive selection pressure, which is reflected inthe population allele increase, despite its deleterious effect. ASpanish study reported similar results and identified folic acidsupplementation on expectant mothers as a probably cause of thischange
