Ovarian cancer (OC) is one of the leading factor in mortality among the cancers of the female reproductive system. One of the important risk factors for ovarian cancer acts is a genetic predisposition. Recently in the study of the malignant neoplasms pathogenesis of ovary special attention was paid to the role of the immune system. This review presents the analysis of domestic and foreign literature devoted to the role of proinflammatory cytokines that mobilize inflammatory response, inflammatory cytokines limiting the development of inflammation, the transcription factors and other participants of the immune response in the ovarian carcinogenesis.

In the presented «case-control» study 338 residents of the Kemerovo Region subject to age, sex, ethnicity and smoking status were included. We formed two groups: 1) «Case» - 163 newly diagnosed lung cancer patients undergoing a medical treatment in the Kemerovo Regional Oncology Center (diagnosis «lung cancer» was determined by experienced doctors from the Kemerovo Regional Oncology based on the results of special medical examination); 2) «Control» - 175 healthy donors of the Kemerovo Regional Center of Blood Transfusion. All donors included in the research were smoking Russian men over 40 years old. The aim of this study was the comparative analysis of polymorphic variants of folate metabolism genes and chromosomal aberrations (CAs) in lung cancer patients and healthy donors resident in the same territory. The following methods were used in our investigation: 1) the routine method of lymphocytes cultivation and chromosomal aberration analysis; 2) the real-time polymerase chain reaction using TaqMan assay for a study of the MTHFR gene C677T polymorphism , the MTR gene A2756G polymorphism and the MTRR gene А66G polymorphism. Statistical analysis were performed using nonparametric statistics (Mann-Whitney U Test for paired comparison of quantitative characteristics), logistic regression (for determination of association of polymorphism in additive, dominant, overdominant, recessive and log-additive models subject to quantitative and binary characteristics), Multifactor Dimensionality Reduction method (for investigation of gene-gene interactions). It was determined that the CAs frequency (both chromatid- and chromosome-type aberrations) was significant increased in lung cancer patients compared to control group. The greatest frequency of chromosome-type aberrations was determined in lung cancer patients with the minor allelic variant (T/T and C/T) on the MTHFR gene. Carriers of such genotype are characterized by decreased functional activity of enzymes. Obtained results suggest the possible effect of failure in folate cycle to the chromosomal instability in conditions of cancerogenic load of environment.

Enzyme NQO1 prevents the formation of free radicals, which can affect organogenesis and contribute to the formation of congenital malformations. The purpose of the present study was to investigate an association between polymorphism P187S of the NQO1 gene with the development of congenital defects of atrial and ventricular septum of the heart. The study included children with atrial septal defect (N = 48) and ventricular septal defect (N = 103), as well as healthy children without CHD (N = 209) - natives of Krasnodar region. It was found that the gene polymorphism P187S NQO1 is associated with a reduced risk of developing defects of atrial and ventricular septum of the heart at girls.

Huntington disease is a debilitating genetic neurodegenerative disease of the central nervous system manifesting by various movement disorders, neuropsychiatric symptoms and mood abnormalities. Huntington disease is categorized by trinucleotide repeat expansion disorder and characterized by increase in number of CAG-triplet in HTT gene. Determination of expansion of CAG-repeats is obligatory for the diagnosis of Huntington disease. Besides that, measuring of CAG-repeats quantity can help to predict future course of the disease. This article is dedicated to the study of the quantity of CAG-repeats in HTT gene in patients with the Huntington disease and in the control group without neurological symptoms. Triplet repeat PCR technique and capillary electrophoresis were used for the detection of CAG-repeats. Validation of system helped to determine basic analytic parameters of test and showed its high reproducibility and precision. Approbation of test system in patients with the Huntington disease showed that in all tested samples had moderate or significant expansion of CAG-repeats. The amount of CAG-triplets in the control group did not exceed limits of normal. Triplet repeats PCR allows determining the quantity of CAG-triplets with high precision and reproducibility, to decrease the time of the test conduction and to simplify the whole procedure.

The results of association study between polymorphism rs3813867 of the CYP2E1 gene and the risk of gastric cancer are present in this paper. We found a tendency in an increased frequency of genotype -1293G/C of CYP2Е1 in patients with gastric cancer in men (p = 0.08), as compared with healthy controls. However, larger study samples are needed to confirm a relationship between this polymorphism and gastric cancer risk.

The renin-angiotensin system is a major regulator of blood pressure. The aim of this study was to investigate the association of polymorphisms +1675G>A (rs1403543) of AGTR2 gene with the risk of ischemic stroke (IS) in the population of Central Russia. We studied DNA samples obtained from 717 subjects, including 414 IS patients and 303 sex- and age-matched healthy individuals. The polymorphisms were genotyped by polymerase chain reaction TaqMan allele discrimination (+1675G>A) assays. The gender-stratified analysis showed that +1675AA genotype associated with an increased risk of ischemic stroke in women (OR = 2,09; 95%CI 1,20-3,62, p = 0,01) while the heterozygous +1675GA genotype associated with a reduced risk of IS (OR = 0,49 95% CI from 0,31-0,78; p = 0.002). This study was the first to demonstrate the association of the +1675G>A (rs1403543) polymorphism of AGTR2 gene with the risk of ischemic stroke in woman from Central Russia.

Polymorphism -76G>T (rs890293) of the CYP2J2 gene showed significant differences in the distribution of genotypes between hypertensive and healthy women. In particular, the heterozygous genotype -76G/T was associated with increased risk of developing essential hypertension in women.

Colorectal cancer (CRC) is one of the most common tumors associated with high mortality in patients. The system of xenobiotics biotransformation mediated by genetic mechanisms is involved in the pathogenesis of colorectal cancer. The aim of this study was to investigate the association of polymorphisms I462V of the CYP1A1 gene and -9-154C>A of the CYP1A2 gene with the risk of CRC in population of the Central Russia. We studied DNA samples obtained from 543 subjects, including 262 CRC patients and 281 sex- and age-matched healthy individuals. The polymorphisms were genotyped through a real-time PCR using TaqMan allele-discrimination assays. We found that the genotype 462II (OR = 1,74, 95% CI = 1,02-2.97, P = 0,04) of the CYP1A1 gene was associated with increased risk of CRC. Meanwhile we observed the protective effect of 462IV genotype against the risk of CRC development (OR = 0,55, 95% CI = 0,32-0,96, P = 0,03). The comparative analysis showed no differences in allele and genotype frequencies of the CYP1A2 -9-154C>A polymorphism between cases and controls. Thus, we found that polymorphism I462V оf the CYP1A1 gene is associated with CRС in the Russian population.

Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder, characterized by primary alveolar hypoventilation and autonomic dysregulation. CCHS is caused in 92% of patients by heterozygous polyalanine expansion from 24 to 33 repeats, located in exon 3 of PHOX2B gene. Missense, nonsense and frameshift PHOX2B mutations explain most of the remaining cases. There is a correlation between the mutation type and the severity of the phenotype in CCHS. Mutations occur de novo in 90-95% of cases. Alleles with 24-25 repeats are classified as incomplete penetrance alleles. These alleles are the cause of congenital central hypoventilation syndrome with late-onset and may explain the re-birth of sick children from asymptomatic parents in some cases. This article shows basic information on central congenital hypoventilation syndrome and the results of molecular diagnostics CCHS in FSBI «RCMG».