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

https://doi.org/10.25100/cm.v46i2.1607

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Published: Jun 30, 2015
Updated: 2015-06-30
Issue: Vol. 46 No. 2 (2015)
Section Original Articles

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Authors

Consuelo Romero-Sanchez Grupo de Espondiloartropatias,Servicio de Reumatologia, Hospital Militar/ Universidad de La Sabana. Unidad de Investigación Básica Oral, UIBO, Universidad El Bosque
Alberto Gomez-Gutierrez Instituto de Referencia Andino Instituto de Genética Humana – Facultad de Medicina-Pontificia Universidad Javeriana.
Piedad Elena Gomez Instituto de Referencia Andino
María Consuelo Casas-Gomez Instituto de Referencia Andino
Ignacio Briceño Instituto de Genética Humana – Facultad de Medicina-Pontificia Universidad Javeriana, Facultad de Medicina, Universidad de La Sabana,
Abstract

Introduction: 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.
Keywords
  • Methotrexate
  • genotype
  • alleles
  • polymorphism
  • metylentetrahidrofolate-reductase
Author Biographies

Consuelo Romero-Sanchez, Grupo de Espondiloartropatias,Servicio de Reumatologia, Hospital Militar/ Universidad de La Sabana. Unidad de Investigación Básica Oral, UIBO, Universidad El Bosque

Servicio de Reumatologia, Hospital Militar.

Unidad de Investigación Básica Oral, UIBO, Universidad El Bosque

Alberto Gomez-Gutierrez, Instituto de Referencia Andino Instituto de Genética Humana – Facultad de Medicina-Pontificia Universidad Javeriana.

ASESOR CIENTIFICO,Instituto de Referencia Andino

PROFESOR TITULAR,Instituto de Genética Humana – Facultad de Medicina-Pontificia Universidad Javeriana,

María Consuelo Casas-Gomez, Instituto de Referencia Andino

DIRECTORA, Instituto de Referencia Andino. Instituto de Genética

Ignacio Briceño, Instituto de Genética Humana – Facultad de Medicina-Pontificia Universidad Javeriana, Facultad de Medicina, Universidad de La Sabana,

PROFESOR TITULAR,Instituto de Genética Humana – Facultad de Medicina-Pontificia Universidad Javeriana.

PROFESOR TITULAR, Facultad de Medicina, Universidad de La Sabana.

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How to Cite
Romero-Sanchez, C., Gomez-Gutierrez, A., Gomez, P. E., Casas-Gomez, M. C., & Briceño, I. (2015). C677t (rs1801133 ) MTFHR gene polymorphism frequency in a colombian population. Colombia Medica, 46(2), 75–79. https://doi.org/10.25100/cm.v46i2.1607
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