Preliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario Academic Article


  • Revista Ciencias de la Salud


  • 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 gene has 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 C677T polymorphism in healthy individuals, taking into account that in Colombia there are only studies that have involved case control methodology. Methods: we analyzed this polymorphism trough the amplification of the DNA of a 206 students sample population. Additionally, Colombian overall frequencies were calculated, using data from healthy controls reported in other studies. Results: a Hardy-Weinberg disequilibrium was found in the sample tested. For the Colombian data, we found that the global population was in equilibrium. Conclusion: T allele population frequency seems to be under positive selection pressure, which is reflected in the population allele increase, despite its deleterious effect. A Spanish study reported similar results and identified folic acid supplementation on expectant mothers as a probably cause of this change.

publication date

  • 2010/1/1


  • Alleles
  • Colombia
  • DNA
  • Enzymes
  • Fetus
  • Folic Acid
  • Gene Frequency
  • Genes
  • Genetic Heterogeneity
  • Genotype
  • Group
  • Heart Diseases
  • Methylenetetrahydrofolate Reductase (NADPH2)
  • Mothers
  • Neoplasms
  • Neural Tube Defects
  • Nucleotides
  • Obstetrics
  • Population
  • Population Characteristics
  • Population Genetics
  • Pressure
  • Single Nucleotide Polymorphism
  • Students
  • cancer
  • cause
  • expectant mother
  • heart disease
  • methodology
  • obstetrics
  • student
  • university

International Standard Serial Number (ISSN)

  • 1692-7273

number of pages

  • 15

start page

  • 7

end page

  • 21