Investigation of MTHFR gene C677T polymorphism in cardiac syndrome X patients

摘要

Background: Definition of Cardiac Syndrome X (CSX) refers to groups of patients withpositive exercise stress test and normal epicardial coronary arteries on coronary angiographyaccompanied by chest pain. Although the etiology of CSX is not completelyunderstood, there is a common consensus that its pathophysiology may be associatedwith endothelial dysfunction resulting in impaired coronary flow. Some polymorphismsobserved on the MTHFR gene cause inactivation of the MTHFR enzyme, leading tohyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascularand cerebrovascular diseases. It was aimed to explain the association ofthe endothelial dysfunction, which is thought to play a role in the pathophysiology ofCSX, with C677T polymorphism on MTHFR gene based on genetic basis.Methods: A total of 176 CSX patients and 196 healthy subjects with similar age andclinical features were compared in terms of C677T polymorphism of the MTHFR gene.Results and Conclusion: There was no significant difference in terms of MTHFR geneC677T polymorphism between CSX patients and controls. When genotypic distributionwas compared based on gender in both patients and controls, no significant differencewas found between male and female subjects (P.05). As fasting blood sugarand urea values were significantly higher, alanine aminotransferase and gammaglutamyltransferase levels were significantly lower in the patients than the controls(P.05). Described family story of the patients was significantly higher than the controls(P.05). These suggest that homocysteine metabolism in CSX is not directlyrelated to the endothelial dysfunction and thus the effect on the microvascularcirculation.