HOMOCYSTINEMIA AND POLYMORPHYSM OF THE GENE FOR METHYLENTETRAHYDROFOLATE REDUCTASE (C677T) IN PATIENT WITH CORONARY ARTERY DISEASE

Abstract

Background: Hyperhomocysteinaemia either due to mutation of the enzyme methylentetrahydrofolate reductase (MTHFR) gene or deficiency of vitamin B12 and folic acid, has been reported as a risk factor for coronary artery disease (CAD). The aim of this study was to determine the concentration of total homocysteine (tHcy) and prevalence of C677T mutation of methylentetrahydrofolate reductase (MTHFR) in healthy subjects and in patients with coronary artery disease (CAD). Also, to evaluate the concentration of tHcy and to analyse if might this mutation will use for prediction of diagnosis of this disease. Material and methods: The investigation comprised 123 healthy subjects control, and 81 consecutive angiography confirmed CAD patients. The concentration of plasma tHcy was determined by cyclical enzymatic method and the MTHFR gene polymorphism was analyzed by the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP). Results: The concentration of plasma tHcy in healthy subjects was statistically significant lower compared with patients with CAD, p<0.001. The highest frequency of mutation of MTFHR gene C677T, was found for genotype CT, then follows wild genotype CC and the lowest frequency of genotype TT in control and CAD groups. Conclusions: The results have shown that plasma tHcy levels is a contributing factor for development of this disease CAD . Influence of polymorphysm of MTHFR gene in the examined alleles and their combinations in genotypes on occurrence of CAD was not statistically significant.