Determinación del polimorfismo C677T de metilentetrahidrofolato reductasa (MTHFR) en una población piloto de estudiantes de la universidad del rosario

Translated title of the contribution: Preliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario

Zaniah N. González-Galofre, Victoria Villegas, María Martínez-Agüero

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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 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.

Translated title of the contributionPreliminary population study of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism determination in a pilot group of students from the university of Rosario
Original languageSpanish
Pages (from-to)7-21
Number of pages15
JournalRevista ciencias de la salud
Volume8
Issue number1
StatePublished - 2010

All Science Journal Classification (ASJC) codes

  • Medicine (miscellaneous)
  • Health(social science)

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