Abstract
Atherosclerotic disease is the leading cause of death in Brazil. It is a complex disease and its prevention involves identification and control of risk factors. Moderately increased plasma homocysteine concentration (hyperhomocysteinemia) has been considered to be a risk factor for several vascular diseases. Mutations in the methylenetetrahydrofolate reductase (MTHFR) enzyme, which is involved in homocysteine metabolism, have been investigated as potential vascular disease risk factors. G1793A polymorphism was described in 2002 and there are few studies analyzing its involvement in diseases. The objective of this study was to investigate the prevalence of G1793A polymorphism in subjects with early coronary artery disease (CAD). Cross-sectional study with control group conducted at a private cardiology clinic and a molecular biology laboratory (Universidade do Vale do Itajaí). We studied 74 early-onset CAD+ patients and 40 CAD- individuals with normal angiography results. DNA was extracted from blood samples. Molecular data were obtained via PCR/RFLP and agarose gel electrophoresis. The occurrence of G1793A heterozygotes was similar in the control (5%) and test (6.25%) groups, thus showing that in the population studied there was no correlation between the marker and occurrences of early CAD. There was also no association between the polymorphism and the risk factors for atherosclerosis. The frequency of the 1793A allele in the test group (3.4%) was similar to what was found in the control individuals (2.5%). There was no correlation between G1793A polymorphism and occurrences of early CAD in this population.
Highlights
Genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) has been the subject of increasing attention as a potential genetic marker associated with atherosclerosis.[1,2,3,4,5] The human 5,10-MTHFR gene is located at the end of the short arm of chromosome 1 (1p36.3), and the total length of the gene cDNA is 2.2 kb
There is no consensus regarding the involvement of these polymorphisms as candidates for increasing the risk of vascular disease, there is a vast body of literature on the subject.[1,2,3,4,5,10,11,12,13]
Demographic and clinical data The study was conducted on 74 coronary artery disease (CAD)+ individuals and 40 CAD- individuals
Summary
Genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) has been the subject of increasing attention as a potential genetic marker associated with atherosclerosis.[1,2,3,4,5] The human 5,10-MTHFR gene is located at the end of the short arm of chromosome 1 (1p36.3), and the total length of the gene cDNA (complementary DNA) is 2.2 kb. MTHFR plays a crucial role in the metabolism of folates and irreversibly converts 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate. 5-methyltetrahydrofolate is the predominant circulatory form of folates and donates a methyl group for remethylation of homocysteine to methionine. The 677C>T (Ala222Val) polymorphism occurs in exon 4 and results in alanine-to-valine substitution at codon 222. The 1298A>C (Glu429Ala) polymorphism occurs in exon 7 and results in glutamate-to-alanine substitution at codon 429. There is no consensus regarding the involvement of these polymorphisms as candidates for increasing the risk of vascular disease, there is a vast body of literature on the subject.[1,2,3,4,5,10,11,12,13]
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