Investigation of MTHFR gene C677T polymorphism in cardiac syndrome X patients

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Kandaz C., Onal B., Ozen D., Demir B., Akkan A. G., Ozyazgan S.

JOURNAL OF CLINICAL LABORATORY ANALYSIS, vol.32, no.2, 2018 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 32 Issue: 2
  • Publication Date: 2018
  • Doi Number: 10.1002/jcla.22247
  • Journal Name: JOURNAL OF CLINICAL LABORATORY ANALYSIS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Keywords: C677T, cardiac syndrome X, microvascular dysfunction, MTHFR, polymorphism, METHYLENETETRAHYDROFOLATE REDUCTASE GENE, NORMAL CORONARY ANGIOGRAMS, ANGINA-PECTORIS, MICROVASCULAR DYSFUNCTION, CLINICAL PRESENTATION, HOMOCYSTEINE, MUTATION, DISEASE, WOMEN, MORTALITY
  • Bezmialem Vakıf University Affiliated: No

Abstract

BackgroundDefinition of Cardiac Syndrome X (CSX) refers to groups of patients with positive exercise stress test and normal epicardial coronary arteries on coronary angiography accompanied by chest pain. Although the etiology of CSX is not completely understood, there is a common consensus that its pathophysiology may be associated with endothelial dysfunction resulting in impaired coronary flow. Some polymorphisms observed on the MTHFR gene cause inactivation of the MTHFR enzyme, leading to hyperhomocysteinemia and homocysteinuria, which are prominent risk factors of cardiovascular and cerebrovascular diseases. It was aimed to explain the association of the endothelial dysfunction, which is thought to play a role in the pathophysiology of CSX, with C677T polymorphism on MTHFR gene based on genetic basis.