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Introduction. Head and neck cancer is a heterogenous group of malignant tumors of different etiologies, molecular mechanisms of which are still insufficiently studied.Aim. Investigation of DNA methylation status of some tumor associated genes (RASSF1A, RASSF2, RASSF5, CDO1, MEST and WIF1) in patients with head and neck squamous cell carcinoma.Materials and methods. The DNA methylation level of normal and tumor tissues was analyzed using bisulfite conversion and methylation-sensitive high-resolution melting in 25 patients (21 men and 4 women) diagnosed with neck squamous cell carcinoma.Results. There were significant differences in levels of DNA methylation between tumor and normal tissues in the CDO1 and WIF1 genes in all groups and subgroups of patients (larynx and other cancers, squamous cell carcinoma keratinizing and non-keratinizing, primary and recurrent tumor, smokers and non-smokers). The methylation level in the CDO1 gene in tumor tissue was significantly increased in the T4 and T3 stage subgroups compared to T2.Conclusion. The increased level of methylation of the CDO1 and WIF1 genes, as well as changes in their expression are among the molecular mechanisms involved in the neck squamous cell carcinoma development. They can be considered as prognostic and diagnostic markers for this pathology.

Background. Premature termination of pregnancy, including miscarriage, remains among the critical problems in modern obstetrics and gynaecology practices. In the context of early gestational failure and the notion that 80% of early miscarriages are triggered by genetic reset — some natural filter — an analysis of current knowledge of the genetic aspects of missed abortion (MA) appears relevant.Objectives. A study of the haplotype frequencies for VDR rs10735810, MTHFR rs1801131, MTHFR rs1801133, MTR rs1805087, MTRR rs1801394 and VEGFA rs3025039 polymorphic loci and their association with vitamin D deficiency in women with missed abortion.Methods. A total of 178 women aged 18 to 41 years were examined. The main cohort consisted of MA patients (n = 101) who were divided between cohort I (n = 58; patients with primary MA) and cohort II (n = 43; patients with recurrent MA). The control cohort (n = 77) consisted of women with a successful pregnancy (Z34.0) entailing a term and live birth. Genotyping of polymorphic loci VDR rs10735810, MTHFR rs1801131, MTHFR rs1801133, MTR rs1805087, MTRR rs1801394 and VEGFA rs3025039 was performed in 177 patients. Total serum 25(OH) D (n = 99) was determined by mass spectrometry. Statistical analysis was carried out using the Statistica v. 10 data analysis software (StatSoft, Russia; TIBCO, USA). Results. No differences were revealed for the frequencies of studied haplotypes between MA women and those who gave birth to healthy full-term newborns (p >0.1). No association was found between first-trimester MA and the presence of polymorphic loci variants (p >0.1). The GG haplotype of gene VDR is even less frequent in recurrent MA patients than in control (14.0% vs. 23.7%; OR = 2.29; 95% CI: 0.738–7.075). The GG haplotype of gene MTR has a 2-fold higher frequency in primary MA patients compared to control, albeit at no statistical significance (8.6 vs. 4.0%). Haplotype TT of the gene VEGF polymorphism occurs even less frequently in primary MA patients than in control (3.5 vs. 7.9%, respectively). Patients with first-trimester MA exhibited an association between vitamin D deficiency and the frequency of polymorphic variants VDR rs10735810 (p = 0.0304) and MTHFR rs1801133 (p = 0.0180). The other studied genes did not reveal such an association.Conclusion. The study demonstrates a pathogenetic association of polymorphic variants VDR rs10735810 and MTHFR rs1801133 with missed abortion and vitamin D deficiency.

Relevance. Currently, the number of percutaneous coronary interventions continues to increase, which leads to an increase in the absolute number of restenosis cases, which is the main complication of the long-term postoperative period. The search for risk factors responsible for restenosis and artery re-narrowing mechanisms in order to prevent this complication is an important goal in interventional cardiology. Risk factors for the restenosis development include clinical, angiographic and genetic factors. An active search for biomolecular markers associated with the coronary artery restenosis is currently underway. Objective: to study the role of polymorphic variants C-174G of the IL6 gene and C-819T of the IL10 gene as a risk factor for the development of restenosis in patients after stent implantation. Materials and Methods : The study included 113 patients with stable coronary artery disease, who had previously undergone balloon angioplasty and implantation of drug-eluting stents, and 62 patients with intact arteries that were included to the control group. Statistical data processing was carried out using the R-language program and the SPSS Statistics 20 software package. Results: GG genotype for IL6 gene was associated with the development of coronary artery disease. In the subgroup of patients over 65 years of age and instent restenosis, the GG genotype was significantly less frequent. The homozygous CC genotype for IL10 gene was associated with rapid angiographic in-stent restenosis progression.

Background. A variety of biological processes regulated by differential gene expression are required to maintain a normal gestation and accordingly, the mutations and polymorphisms in such genes may cause miscellaneous biological disorders that eventually result in early pregnancy loss. Many studies reported that aberrant fetal DNA methylation as well as embryonic chromosome abnormalities may lead to impairment of fetal early growth and development. Therefore, we have aimed to genotype several gene polymorphisms might be involved in the above-mentioned biological disorders to screen their prevalence in Russian population. Materials and methods. 81 Russian women without previous history of normal pregnancy or early abortion were recruited into this population study to determine the genotype and allele frequencies through genotyping using RFLP-PCR method for DNMT3B rs2424913, DNMT3B rs1569686, DNMT3A rs7590760, DNMT1 rs2228611, DNMT1 rs8101626, DNMT3L rs2276248, and DNMT3L rs2070565, allele-specific PCR for SYCP3 T657C, and real-time PCR for MTHFR rs1801133, MTHFR rs1801131, MTR rs1805087, and MTRR rs1801394. Results. Minor homozygous genotypes and minor alleles of the polymorphisms DNMT3B rs2424913 (TT: 11.1%, T: 37.05%), DNMT1 rs2228611 (GG: 18.5%, G: 40.75%), and DNMT1 rs8101626 (GG: 16.0%, G: 40.1%) were quite prevalent in Russian women and as frequent as those of the well-studied polymorphisms: MTRR rs1801394 (GG: 27.2%, G: 50.65%), MTHFR rs1801131 (CC: 17.3%, C: 40.15%), and MTHFR rs1801133 (TT: 11.1%, T: 29.0%).The heterozygous genotype of SYCP3 T657C (CT: 12.3%, T: 6.15%) was also quite frequent. Conclusion. Based on our study and literature data, we suggest that DNMT3B rs2424913, DNMT1 rs2228611, DNMT1 rs8101626, and SYCP3 T657C polymorphisms along with the common folate cycle gene polymorphisms can be potential genetic predictors for early pregnancy loss in Russian women.

Aim. To study the anti-inflammatory effects of intensive lipid-lowering therapy and genetic predictors of its effectiveness in patients with very high cardiovascular risk.Material and methods. 58 patients with a history of cardiovascular disease and low-density lipoprotein cholesterol (LDL-C)>1.8 mmol/l or non-highdensity lipoprotein cholesterol (non-HDL-C)>2.6 mmol/l (mean age 61.9±8.6 (M±SD) years, 62.1% of men) were included into the study. Polymorphism Phe189Ser of the CYP3A4 (gene encoding cytochrome P4503A4, CYP3A4*17, rs4987161) and APOA1 (gene encoding apolipoprotein A): -75G/A in the promoter region (rs670) and +83C/T in the 5'-untranslated region (rs5069) was determined in all patients. Inflammatory status (high-sensitivity C-reactive protein (hsCRP), monocyte chemoattractant protein (MCP-1) and soluble vascular adhesion molecule (sVCAM-1)) was assessed initially and after 4 weeks of treatment with atorvastatin 80 mg/day. The results were considered statistically significant at p

We investigated the distribution of the AGT T174M and AGTR1 A1166C polymorphisms, which predispose to cardiovascular diseases, among Algerians, Syrians and Russians from Central Russia. The genotypes were determined with the use ofallele-specific PCR. A significant difference between the studied samples was revealed in the T174M genotype distribution, whereas no significant difference was found in case of the A1166C polymorphism.

The article presents the results of the study of the genetic polymorphism of HLA-antigens in 65 adult patients with ulcerative colitis (UC) living in Moscow region. It was found that certain groups of HLA alleles are associated with the pathogenesis of UC. Immunogenetic factors of predisposition and sustainability to this disease depending on gender and age were revealed. The relationship of immunogenetic factors with clinical forms of the disease, course of the UC and response to therapy with glucocorticoids were shown.

Diphtheria is considered to be vaccine-preventable disease due to organized immunization programmes. However there are still endemic regions of diphtheria, whence reports of mortal cases are coming. Most of deaths are caused by cardiotoxic effect of diphtheria toxin. Structural changes of left ventricular myocardium were investigated on a model of acute diffuse diphtheria intoxication. It was found that the most significant inflammatory signs manifest on the 5 th day of the experiment which is confirmed by profound infiltrative-degenerative changes of the myocardium.

Prevalence and importance of hypertension in the general incidence structure determines a wide range of research problems. Chronobiological indices are of great importance in the investigatory activity concerning mechanisms of essential hypertension. Our work was focused on the dynamics of HR circadian profile at different terms in male SHR rats with the use of telemetry monitoring. The obtained data showed considerable changes of cardiac rhythm in different time intervals which was understood as inhibition of the chronotropic function of the heart.

This study presents the genetic polymorphism of HLA-antigens in acquired aplastic anemia (AAA) in 147 children (85 boys и 62 girls) aged 1 to 18 with. The control group is consisted of 1700 umbilical cord blood samples of healthy newborns. The genetic polymorphism of HLA was studied in groups of children with AAA, divided by gender and age. Our results revealed distinction in HLA-markers of predisposition and sustainability to AAA. Possible differences in factors of immunogenetic predisposition suggest different mechanisms involved in the development of the disease in different groups of children and reconsider the existing model of the pathogenesis of AAA.

Caspase-3 and caspase-8 activity in right ventricular myocardial cells of rabbits with experimental arterial hypertension (AH) was investigated. Caspase-3 activity significantly increased at 2 and 4 weeks after modeling of AH. Obtained data demonstrated increased apoptosis in right ventricular myocardial cells in experimental arterial hypertension. Absence of significant increasing of caspase-8 activity indicates the predominance of intrinsic apoptogenic signals.