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C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population.

Romero-Sánchez C, Gómez-Gutierrez A, Gómez PE, Casas-Gomez MC, Briceño I - Colomb. Med. (2015)

Bottom Line: 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.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).Abstract available from the publisher.

View Article: PubMed Central - PubMed

Affiliation: 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.

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.

No MeSH data available.


Related in: MedlinePlus

Comparison of the three genotypes in the total sample: a significant statistical differences for C/C, b significant statistical differences for C/T, c significant statistical differences for T/T. All the analysis were obtained by Chi square p< 0.05.
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f01: Comparison of the three genotypes in the total sample: a significant statistical differences for C/C, b significant statistical differences for C/T, c significant statistical differences for T/T. All the analysis were obtained by Chi square p< 0.05.

Mentions: The most frequently observed genotype was the heterozygous C/T (80 individuals, 52.6%), followed by the homozygous C/C with 52 individuals (34.2%). The homozygous genotype T/T had the lowest frequency in the population studied (20 individuals), corresponding to 13.2%. The frequencies of genotype C/C vs. C/T and T/T were significantly different (p = 0.001 and p= 0.026, respectively), as were C/T and T/T p= 0.0001 (Fig. 1).


C677T (RS1801133 ) MTHFR gene polymorphism frequency in a colombian population.

Romero-Sánchez C, Gómez-Gutierrez A, Gómez PE, Casas-Gomez MC, Briceño I - Colomb. Med. (2015)

Comparison of the three genotypes in the total sample: a significant statistical differences for C/C, b significant statistical differences for C/T, c significant statistical differences for T/T. All the analysis were obtained by Chi square p< 0.05.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4536819&req=5

f01: Comparison of the three genotypes in the total sample: a significant statistical differences for C/C, b significant statistical differences for C/T, c significant statistical differences for T/T. All the analysis were obtained by Chi square p< 0.05.
Mentions: The most frequently observed genotype was the heterozygous C/T (80 individuals, 52.6%), followed by the homozygous C/C with 52 individuals (34.2%). The homozygous genotype T/T had the lowest frequency in the population studied (20 individuals), corresponding to 13.2%. The frequencies of genotype C/C vs. C/T and T/T were significantly different (p = 0.001 and p= 0.026, respectively), as were C/T and T/T p= 0.0001 (Fig. 1).

Bottom Line: 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.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).Abstract available from the publisher.

View Article: PubMed Central - PubMed

Affiliation: 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.

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.

No MeSH data available.


Related in: MedlinePlus