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Open access

Andrey V. Grek, Lyudmyla N. Prystupa and Tatiana V. Sytnik


Cardiovascular diseases (CVD) of atherosclerotic origin and accompanying complications are a major cause of mortality in the world and Ukraine, in particular. Endothelial dysfunction is the key cause of atherosclerosis and atherothrombosis. One of the causes of endothelial dysfunction is hyperhomocysteinemia that may occur on the background of MTHFR (methylenetetrahydrofolate reductase) mutation.

Thus, the goal of the study was to investigate the interrelation between homocysteine (Hc) level and MTHFR polymorphism in patients with acute coronary syndrome (ACS).

161 patients with ischemic heart disease and ACS have been examined. The control group comprised 87 healthy individuals. Homocysteine level was the highest in the patients having ACS with ST-segment elevation and complicated course, and was 1.8 times higher than Hc level in the control group. The patients with the most severe ACS course comprised 27 % of homozygotes for the major allele C and 41 % of homozygotes for the minor allele T. Comparing the distribution of MTHFR gene C677T polymorphism in patients with ACS that were stratified by plasma Hc level, we observed a statistically significant association, P < 0.030 by chi-square test. We confirmed that these patients had a high T/T genotype frequency of MTHFR C677T polymorphism. The obtained data proved the association of T/T genotype of MTHFR C677T polymorphism with increased Hc level as well as ACS severity.

Open access

Katya S. Kovacheva, Petya A. Nikolova, Valentin V. Hristov, Diana I. Pendicheva, Sotir T. Marchev, Tihomir R. Rashev, Georgi M. Golemanov, Zornica B. Kamburova, Maria N. Simeonova and Rusi G. Marev


Administration of antiplatelet therapy Aspirin and Clopidogrel (CLP) is a corner stone inpatients with Acute Coronary Syndrome (ACS) undergoing Percutaneous Coronary Intervention (PCI) with/without stent implantation. The CYP2C19*2 allele is the most important genetic variant determining response to CLP. We aim to investigate frequency of CYP2C19*2 polymorphism in patients with ACS and significance for the individual response to CLP therapy. The preliminary data of a study including a total of 120 patients with ACS undergoing PCI with stent placement and treated with dual antiplatelet therapy (CLP and Aspirin) are presented. So far 18 patients (41-81 year age) are tested for CYP2C19*l/*2 polymorphisms. The genotype CYP2C19*1/*1; CYP2C19*l/*2 and CYP2C19*2/*2 is demonstrated in 50%, 33%, 17% respectively, of the patients. The established frequency of CYP2C 19*2 allele (33%) is significantly higher (x2=5.220; p=0.022) than in healthy Bulgarian individuals (16%). In-stent thrombosis have developed 3 (17%) of patients: 2 are C YP2C19* l/*2 carriers, and 1 - homozygous CYP2C19*2/*2. The preliminary data demonstrate high prevalence of CYP2C19*2 polymorphism in patients with ACS and point to significance of the variant for CLP therapy. Further extension of the study with larger samples and monitoring of the patients are required to determine the effects of the polymorphism on the prognosis for major adverse cardiovascular events.

Open access

Alexander E. Julianov, Anatoli G. Karashmalakov, Ivan G. Rachkov and Yonko P. Georgiev

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Open access

Barbara Kołakowska

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