Frecuencia del polimorfismo c677t (rs1801133) del gen MTFHR en individuos colombianos

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.

Frequency and coexistence of the C677T and A1298C polymorphisms of the MTHFR gene in Aures region of Algeria

“…In another evaluation of Colombian individuals, healthy subjects were included, different genotype frequencies were found relative to the present report: 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%) and T/T had the lowest frequency in the population studied (20 individuals, 13.2%) (Romero-Sánchez et al 2015). According to a study published on the association between C677T and A1298C polymorphisms and elevated homocysteine, in 117 healthy volunteers in Portugal population (southwestern Europe), that reported the distribution of the genotype and allele frequencies of C677T polymorphism was 33.3% for T allele and 66.7% for C allele.…”

Distribution of MTHFR C677T Gene Polymorphism in Healthy North Indian Population and an Updated Meta-analysis

“…In included 62 articles-two articles were published by Australian scientists and they analyzed C677T polymorphism in three populations [25,26] and 3 articles were published from African region, investigated total seven populations [25,27,28]. Five articles with twelve populations were published from South America [29][30][31][32][33] (Table 2).…”

Precision Medicine for Alzheimer’s Disease Prevention

“…Several MTHFR polymorphisms have been described in the literature [ 44 ], but two polymorphisms, C677T and A1298C, have had the greatest investigation as to their association with AD [ 45 ]. These polymorphisms also appear to have a high prevalence in the general population [ 46 ], and one study reported that 92.5% of its AD subjects had at least one of these MTHFR polymorphisms [ 45 ].…”