Common Mutation of Methylenetetrahydrofolate Reductass and Homocysteine in Patients with Coronary Artery Disease / 대한면역학회지

ABSTRACT

Recently the alanine/valine (A/V) polymorphism of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene, one of the key enzymes catalyzing remethylation of homocysteine, has been reported to its association with coronary artery disease. lhe homozygous of C677T mutation (VV genotype) correlates with increased plasma homocysteine levels as a result of the reduced activity and increased thermolability of MTHFR. We investigated whether this rnutation and homocysteine influence risk for coronary artery disease (CAD) in normal control subjects and CAD patients and two risk groups, A (>2 risk factors) and B (<1 risk factor). The MTHFR genotype and plasma homocysteine were determined by PCR followed by HinA digestion and high performance liquid chromatography (HPLC) system, respectively. From this study, statistical significance of V mutation of MTHFR between four groups was not found. Homocysteine level was the highest in CAD patients and the lowest in risk group B. Plasma homocysteine level in VV genotype of CAD patients was significantly higher than in other two genotypes and normal control subjects. We concluded that homozygisty for the C677T mutation of MTHFR was not an independent risk factor of CAD but associated with a prediposition to increased plasma homocysteine levels in CAD patients.