Frequency of MTHFR G1793A polymorphism in individuals with early coronary artery disease: cross-sectional study

Sao Paulo Medical Journal

Antonio Ivo Moritz Neto¹  Joel Rolim De Moura Junior¹  Darlene Camati Persuhn¹ 

关键词: Atherosclerosis;    Homocysteine;    Cardiovascular diseases;    Polymorphism;    restriction fragment length;    Hyperhomocysteinemia;    Aterosclerose;    Homocisteina;    Doencas cardiovasculares;    Polimorfismo de fragmento de restricao;    Hiper-homocisteinemia;   

DOI  :  10.1590/1516-3180.2013.1315500

来源: SciELO

【 摘 要 】

CONTEXT AND OBJECTIVE: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).DESIGN AND SETTING:Cross-sectional study with control group conducted at a private cardiology clinic and a molecular biology laboratory (Universidade do Vale do Itajaí).METHODS: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.RESULTS: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.CONCLUSIONS: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.

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