C677t (rs1801133 ) MTFHR gene polymorphism frequency in a colombian population

摘要: Introduction: Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk both cardiovascular and cerebrovascular disease higher concentrations homocysteine. also related to birth defects, pregnancy complications, cancer toxicity methotrexate (MTX). Polymorphisms of  MTHFR affect activity enzyme. Genetic associations have been treatment efficacy. Objective: To establish frequency C> T polymorphism at nucleotide 677 gene in a group Colombian individuals. Methods: Data from pharmacogenetic microarrays that include MTX sensibility-associated polymorphisms were retrospectively collected (Pathway Genomics®). The rs1801133 marker was analyzed. Results: Microarray data 68 men 84 women Comparisons genotype C/C vs. C/T T/T statistically significantly different ( p = 0.00,  0.026, respectively), as / 0.0001). Conclusions: Results for genotypes population similar other previously studied groups healthy subjects. Subjects our might be developing diseases with  present adverse effects if treated MTX, which suggests need evaluate therapeutic alternatives based on individual studies.