title: Frequency of MTHFR G1793A polymorphism in individuals with early coronary artery disease: cross-sectional study.
abstract: 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).
  
  
  METHODS
  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.
authors: Ultratito Clinic, FlorianópolisSanta CatarinaBrazil.
authors: Antonio Ivo Moritz
authors: AI
authors: Neto
authors: Joel Rolim de
authors: JR
authors: Moura
authors: Darlene Camati
authors: DC
authors: Persuhn
mesh_terms: D050197:Atherosclerosis / Q000235:genetics*; D016022:Case-Control Studies; D003324:Coronary Artery Disease / Q000235:genetics*; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012307:Risk Factors; D018709:Statistics, Nonparametric
chemical_list: C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)