title: C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population.
abstract: BACKGROUND
  Abnormal levels of the enzyme methylenetetrahydrofolate reductase (MTHFR) are associated with an increased risk of both cardiovascular and cerebrovascular disease and higher concentrations of homocysteine. Abnormal levels are also related to birth defects, pregnancy complications, cancer and toxicity to methotrexate (MTX). Polymorphisms of MTHFR affect the activity of the enzyme. Genetic associations have been related to treatment efficacy.
  
  
  OBJECTIVE
  To establish the frequency of the C> T polymorphism at nucleotide 677 of the MTHFR gene in a group of Colombian individuals.
  
  
  METHODS
  Data from pharmacogenetic microarrays that include MTX sensibility-associated polymorphisms were retrospectively collected (Pathway Genomics(®)). The frequency of the C> T MTHFR rs1801133 marker polymorphism was analyzed.
  
  
  RESULTS
  Microarray data from 68 men and 84 women were analyzed. Comparisons of genotype C/C vs. C/T and T/T were statistically significantly different (p= 0.00, p= 0.026, respectively), as were C/T and T / T (p= 0.0001).
  
  
  CONCLUSIONS
  Results for the C/C and C/T genotypes in a Colombian population are similar to other previously studied groups of healthy subjects. Subjects from our population might be at risk of developing diseases associated with MTHFR polymorphisms and might present toxicity and adverse effects if treated with MTX, which suggests the need to evaluate therapeutic alternatives based on individual pharmacogenetic studies.
authors: Instituto de Referencia Andino. Bogotá, Colombia ; Servicio de Reumatología e Inmunología, Hospital Militar. Bogotá, Colombia ; Instituto UIBO - Unidad de Investigación Básico Oral, Universidad El Bosque. Bogotá, Colombia.
authors: Consuelo
authors: C
authors: Romero-Sánchez
authors: Instituto de Referencia Andino. Bogotá, Colombia ; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana. Bogotá, Colombia.
authors: Alberto
authors: A
authors: Gómez-Gutierrez
authors: Instituto de Referencia Andino. Bogotá, Colombia.
authors: Piedad Elena
authors: PE
authors: Gómez
authors: Instituto de Referencia Andino. Bogotá, Colombia.
authors: Maria Consuelo
authors: MC
authors: Casas-Gomez
authors: Instituto de Referencia Andino. Bogotá, Colombia ; Instituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana. Bogotá, Colombia ; Facultad de Medicina, Universidad de La Sabana. Bogotá, Colombia.
authors: Ignacio
authors: I
authors: Briceño
mesh_terms: D000328:Adult; D003105:Colombia; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020411:Oligonucleotide Array Sequence Analysis; D012189:Retrospective Studies
chemical_list: D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: Methotrexate; alleles; genotype; metylentetrahidrofolate-reductase; polymorphism