title: Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease.
abstract: OBJECTIVE
  Obstructive coronary artery disease (CAD) is characterized by the deposition of atherosclerotic plaque on the coronary artery wall. Its manifestations depend on interactions between environmental and genetic risk factors. The aim of this work was to analyze the frequency of methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in patients with CAD and its association with plasma homocysteine levels. Risk factors for CAD were also evaluated.
  
  
  METHODS
  Retrospective with blind quantitative analysis, at Hospital de Base, Faculdade de Medicina de São José do Rio Preto.
  
  
  METHODS
  One hundred and twenty-seven individuals were studied. All completed a questionnaire to analyze risk factors for CAD. MTHFR polymorphism was investigated by restriction fragment length analysis and correlated with the number of affected arteries and degree of arterial obstruction determined by coronary cineangiography, and with plasma homocysteine levels measured by liquid chromatography/sequential mass spectrometry.
  
  
  RESULTS
  Smoking (p = 0.02) and high-density lipoprotein cholesterol (p = 0.01) were associated with CAD. The C allele was the most prevalent in patients (0.61) and controls (0.66). There was no correlation between MTHFR/C677T polymorphism and plasma homocysteine levels. However, in patients with the TT genotype there was a correlation with the prevalence of coronary obstruction greater than 95% (p = 0.02) and the presence of two affected arteries (p = 0.04).
  
  
  CONCLUSIONS
  The TT genotype is associated with coronary artery obstruction greater than 95% and the presence of two affected arteries. This confirms the relationship between genetic variants in specific patient subgroups and cardiovascular diseases.
authors.affiliation: Unidade de Pesquisa em Genética e Biologia Molecular, Faculdade de Medicina de São José do Rio Preto, São José do Rio Preto, São Paulo, Brazil.
authors.forename: Alexandre Rodrigues
authors.initials: AR
authors.lastname: Guerzoni
authors.forename: Erika Cristina
authors.initials: EC
authors.lastname: Pavarino-Bertelli
authors.forename: Moacir Fernandes de
authors.initials: MF
authors.lastname: Godoy
authors.forename: Carla Renata
authors.initials: CR
authors.lastname: Graça
authors.forename: Patrícia Matos
authors.initials: PM
authors.lastname: Biselli
authors.forename: Dorotéia Rossi Silva
authors.initials: DR
authors.lastname: Souza
authors.forename: Eny Maria Goloni
authors.initials: EM
authors.lastname: Bertollo
mesh_terms: D000483:Alleles; D001938:Brazil; D002932:Cineangiography; D003324:Coronary Artery Disease / Q000175:diagnosis / Q000235:genetics*; D003538:Cystamine / Q000031:analogs & derivatives / Q000097:blood; D004812:Epidemiologic Methods; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic / Q000235:genetics*; D012907:Smoking
chemical_list: C029174:homocystamine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003538:Cystamine