title: [Role of the polymorphisms within genes encoding proteins related to endothelial dysfunction in coronary artery disease].
abstract: Endothelial dysfunction is crucial in the development of atherosclerotic lesions. There is number of factors involved in this process, e.g. hypercholesterolemia, hyperhomocysteinemia, free radicals, hypertension, obesity or overweight, smoking. Polymorphisms of the genes encoding products involved in the atherosclerotic process play significant role in the etiology of atherosclerosis and coronary artery disease (CAD). The aim of the present study was to show the role of the factors and markers of endothelial dysfunction e.g. methylenetetrahydrofolate reductase (MTHFR), E-selectin (CD62E) and intercellular adhesion molecule-1 (ICAM-1) and common polymorphisms within genes encoding these molecules in the etiology of CAD. MTHFR catalyzes a reduction of 5,10-methylenetetrahydrofolate to 5-methyletetrahydrofolate that is the carbon donor for the remethylation ofhomocysteine (Hcys) to methionine. The 677C>T polymorphism in the MTHFR gene influences enzyme thermolability that leads to its decreased activity and in consequence to elevated level of plasma Hcys. E-selectin is synthesized by the endothelium after the activation of inflammatory cytokines such as interleukin-1 (IL-1) and tumor necrosis factor-alpha (TNF-alpha). The C allele of the 561A>C polymorphism within CD62E is suggested to be a risk factor for restenosis in CAD patients. Another polymorphism in CD62E gene, 98G>T polymorphism is suggested to be a marker of the 561A>C polymorphism and both of these changes are likely to control the E-selectin expression. The 1405A>G polymorphism in ICAM1 gene may affect mRNA splicing patterns that modify cell-cell interactions and influence inflammatory response.
authors.affiliation: Katedra Farmacji Stosowanej, Zakład Technologii Postaci Leku, Wydział Farmaceutyczny z Oddziałem Medycyny Laboratoryjnej, Slaski Uniwersytet Medyczny w Katowicach. beatasarecka@poczta.onet.pl
authors.forename: Beata
authors.initials: B
authors.lastname: Sarecka-Hujar
authors.forename: Iwona
authors.initials: I
authors.lastname: Zak
mesh_terms: D003324:Coronary Artery Disease / Q000235:genetics* / Q000378:metabolism; D019040:E-Selectin / Q000235:genetics / Q000378:metabolism; D004730:Endothelium, Vascular / Q000378:metabolism*; D006801:Humans; D018799:Intercellular Adhesion Molecule-1 / Q000235:genetics / Q000378:metabolism; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics / Q000378:metabolism; D011110:Polymorphism, Genetic
chemical_list: D019040:E-Selectin; D018799:Intercellular Adhesion Molecule-1; D042965:Methylenetetrahydrofolate Reductase (NADPH2)