Methylenetetrahydrofolate reductase gene polymorphism and its association with coronary artery disease.
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.
Guerzoni
Alexandre Rodrigues
AR
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.
Pavarino-Bertelli
Erika Cristina
EC
Godoy
Moacir Fernandes de
MF
Graça
Carla Renata
CR
Biselli
Patrícia Matos
PM
Souza
Dorotéia Rossi Silva
DR
Bertollo
Eny Maria Goloni
EM
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
C029174:homocystamine; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D003538:Cystamine