Rapid development of genetics and research in the field of polymorphism of genes opens up wide field for development of pharmacological agents for correction of cardiovascular diseases. One of the trends in this area is correction of the metabolism epoxyeicosatrienoic acids as biological factor in the regulation of vascular homeostasis. This review is devoted to characteristics of metabolism epoxyeicosatrienoic acids and their biological role in the regulation of the cardiovascular system.

Epigenetic alterations play a significant role in leukemogenesis. Here we present the current view on the epigenetic phenomena involved in the formation and progression of acute myeloid leukemia in children and adults. These include aberrant gene silencing by deactivating histone marks, aberrant DNA methylation of promoter CpG-islands, and posttranslational regulation of gene expression by means of miRNA. We present the most well studied epigenetic markers of acute myeloid leukemia in children and adults and briefly review our own recent advances in the field. Due attention is given to the epigenetic agents for acute myeloid leukemia treatment. We highlight the significance of the histone modifications and DNA methylation crosstalk which is to be considered in the developing of the treatment regimens.

The article presents a unique case of detection of a rare mutation both in the donor and recipient of sex cells. The article contains information on molecular genetic approaches to the preconception expanded carrier screening. The medical technology «Detection system for frequent mutation of the PROP1 gene responsible for the combined deficiency of pituitary hormones» was using for population frequency of the mutation c.301_302delAG (p.S101fsX) of the PROP1 gene detection. It was found that the allelic frequency of this deletion is 0.4, the estimated carrier frequency of autosomal recessive hormone deficiency is 1.6% ± 0.13, and the estimated frequency of the disease is 1 per 16 000.

A number of population genetic characteristics in the Urupsky and Zelenchuksky districts of the Karachay-Cherkess Republic has been calculated using non-biological sources of information. A low endogamy, a positive ethnic marriage assortativeness, and a lack of a marked subdivision of the population were observed. The analysis of the sex and age structure revealed the small number of the pre-reproductive cohort of the population, the asymmetry of the male and female part of the population.

Chronic hyperglycemia results in oxidative stress that has been implicated as the underlying cause of all DM complications. The glutathione-S-transferases (GSTs) are antioxidant enzymes that catalyze the conjugation of reactive oxygen and nitrogen species to glutathione. The present work aimed to study the effect of the genetic polymorphisms of the GSTM1 , GSTT1 and GSTP1 genes on the risk of developing type 2 DM in Kursk population. The study groups included 321 patient (mean age 59,31 ± 9,23) with type 2 DM who were admitted to the endocrinological department of Kursk Emergency Hospital from January to October 2016, and 327 age-and sex-matched healthy subjects (mean age 59,49 ± 8,14). Genotyping of deletion (del) polymorphisms of GSTM1 and GSTT1 genes was performed by multiplex PCR with subsequent analysis of the amplification products using electrophoresis on a 2% agarose gel with ethidium bromide and visualization of results in UV light. Genotyping of GSTP1 Ile105Val polymorphism was performed by PDAF, PCR, real-time discrimination of alleles using TaqMan probes. There was no difference in genotype distribution among type 2 DM and control subjects in GSTM1 and GSTT1 genes (р0,05). Significant differences between the genotype frequencies for the GSTP1 105Ile/Val and GSTP1 105Val/Val polymorphisms were observed in diabetic patients (51,1%) as compared to controls (42,8%), (OR 1,39, 95%CI 1,02-1,90, р = 0,03). The same association of genotypes GSTP1 105Ile/Val and GSTP1 105Val/Val was found in diabetic females (OR 1,59, 95%CI 1,07-2,38, р = 0,02), whereas diabetic males showed greater frequency of the GSTT1 del/del genotype (OR 2,13, 95%CI 1,07-4,24, р = 0,02). We observed a significant association of the double combinations GSTM1+ х GSTP1 105Val/Val (OR 2,62; 95%СI 1,01-6,84, р = 0,04) and GSTТ1 del/del х GSTP1 105Val/Val (OR 4,82, 95%СI 1,21-19,10, р = 0,02) with the risk of type 2 diabetes mellitus development. The established associations indicate the involvement of polymorphisms of glutathione-S-transferases in the formation of predisposition to T2DM and confirm the significant role of disturbances in antioxidant defense system in the pathogenesis of the disease.

Acute pancreatitis (AP) is a multifactorial disease, the development of which is determined by a complex interaction of multiple genes and various environmental factors, questions relating to genetic mechanisms of AP and its complications have been studied are not enough. An important role in the development of acute pancreatitis is given the action of toxic substances and disruption of the regulation of pro- and antioxidant protection. One of prooxidant enzymes is aldehyde oxidase (AOX1), which plays a substantial role in the metabolism of xenobiotics, drugs and ethanol degradation products. Aldehyde oxidase gene was not considered as a possible candidate susceptibility to acute pancreatitis, although the pathogenetic significance of AOX1 gene against acute pancreatitis is obvious. The aim of this study was to investigate the relationship between polymorphism (rs55754655) AOX1 gene and risk of acute pancreatitis in Russian population. Whole blood samples were obtained from 311 AP patients and 238 healthy controls. Genotyping of polymorphisms (rs55754655) AOX1 gene was performed through a TaqMan assay. Genotype А/G (OR = 1.83 95% CI 1.06-3.17 p = 0.03) was significantly associated with the risk of AP. Stratified analysis showed that the genotype A / G was associated with development of acute pancreatitis in women (OR = 3.36 95% CI 1.25-9.01 p = 0.01). Statistically significant differences in the frequencies of alleles and genotypes of polymorphism in groups of smokers and non-smokers are not installed. It was found that the amount and frequency of administration of alcohol did not change the overall picture of genotype associations with the risk of acute pancreatitis. However, patients with genotype A/G with a history of alcohol drinking 10 or more years have the highest risk to the developing pancreatitis (OR = 2.63 95% CI 1.21-5.7, p = 0.01).

Schizophrenia is a multifactorial polygenic disease characterized by both genetic and environmental components. There is growing information about the genetic variations contributing to schizophrenia. In the current study we aimed to explore the potential association of single nucleotide polymorphism rs6339 of the NTRK1 gene with schizophrenia. For this purpose, DNA samples isolated from the blood of patients with schizophrenia and healthy individuals were genotypes using polymerase chain reaction with allele-specific primers. The obtained results demonstrated no association between schizophrenia development risk and the studied genetic variant. However, the absence of association found in this study does not exclude the association of other genetic polymorphisms of this gene or nearby locus with schizophrenia.

For the first time, the Compulsory Health Insurance database was used to estimate the parameters of the population-genetic structure. The values of random inbreeding and Barrai parameters in three generations of rural Circassians are considered: pre-reproductive part of the population (0-17 years old), reproductive part (18-45 years old), and post-reproductive one (46 and older). The size of these three age groups is different: the younger one is 24.9% of the total population, the middle one is 42.1%, the oldest is 33%. The random inbreeding was 0.0016 in each of the age groups; the Barrai parameters also show no significant changes through time. The existing level of genetic load is expected to be maintained in the near future.