The aim of the study was to evaluate the putative association of the rs11064153 variant of the SCNN1A sodium channel gene with arterial hypertension (AH) among patients suffering from AH and relatively healthy people in the Trans-Baikal Territory.Design and methods. The present study included 106 patients with a confirmed diagnosis of AH. All participants were included in the study after signing informed consent. The control group consisted of 98 practically healthy people. The groups were comparable in age: the average age in the group with primary AH was 45 ± 9,7 years, in the control group— 42,5 ± 5,8 years. The number of men in group 1 was 73,6% (78/106), in group 2–55,1% (54/98) of the total number of cases (Chi-square = 7,62, df = 1, p < 0,005). Molecular genetics typing of the studied genes was carried out. SNPs of the sodium channel genes SCNN1A (rs11064153) were determined by real-time polymerase chain reaction. We have evaluated the subordination of the distribution of genotypes of samples to the Hardy-Weinberg equilibrium, χ2 -test, and also estimated the odds ratio (OR).Results. Carriage of the T/T genotype in the group of patients with AH was more frequent than in the control group (97,4% and 86,6%, respectively; χ2 = 8,60, p = 0,01). Thus, carriage of the T/T genotype of the SCNN1A gene increased the likelihood of AH in patients (OR = 2,27, 95% confidence interval (CI) 1,29–4,01, p = 0,01). Among patients, the T allele was detected 1,5 times more often with a frequency of 0,78 compared with the group of healthy individuals — 0,22 (χ2 = 7,28; p = 0,007). The C/C genotype was detected only in three patients from the AH group (2,8%) and in seven patients from the control group (7,1%). It was found that the C allele of the SCNN1А gene (rs11064153) 5 times less often than in the control group, and its frequency was 0,22 versus 0,34, respectively (χ2 = 7,28, p = 0,007). The carriage of the C allele (C/C+T/C genotypes) is associated with a lower incidence in patients with AH (OR = 0.54; 95% CI 0,35–0,85, p = 0,007). In the samples examined by us, the carriage of the C allele reduced the likelihood of AH by 2,3 times.Conclusions. We have found that the T allele and the T/T genotype of the rs11064153 variant of the SCNN 1A gene increase the likelihood of developing hypertension. Carrying allele C and the C/C SCNN1A genotype (rs11064153) reduces the likelihood of developing AH.

Voltage-gated Ca2+ channels play a key role in the regulation of arterial tone and blood pressure. The aim of this study was to determine whether the association of calcium voltage-gated channel subunit alpha1 C (CACNA1C) rs1006737 with essential hypertension (EH) exists in both Chinese Han and ethnic Russian populations of Northeast Asia. We used a case-control study of 2 ethnic groups in the same latitude geographical area to investigate the association between the susceptibility of EH and rs1006737 polymorphism. A total of 1512 EH patients and 1690 controls in Chinese Han people (Heilongjiang Provence, China), 250 EH patients, and 250 controls in ethnic Russian people (Chita, Russia), participated in this study. All participants were genotyped using the TaqMan SNP genotyping assay (Agena Company). Baseline characteristics and the minor allele frequencies of rs1006737 vary substantially among common Chinese Han and ethnic Russian people. Allele A was found to be a risk factor for EH in Chinese Han [(odds ratio) OR 1.705, (confidence interval) 95% CI: 1.332-2.182, P < .001] and ethnic Russian (OR 1.437; 95% CI: 1.110-1.860, P = .006). The GA genotype was significantly associated with an increased risk of hypertension (OR 1.538, 95% CI: 1.188-1.991, P = .001) for Chinese Han people, and the AA genotype (OR 2.412, 95% CI: 1.348-4.318, P = .003) for ethnic Russian people. The results of this study indicate that the A allele of the variant rs1006737 in the CACNA1C gene may be a useful genetic marker for EH risk prediction in Chinese Han and ethnic Russian populations.

Background. An infant brain damage is an extremely urgent problem, this pathology is difficult to prevent, and subsequently it manifests itself with a variety of neurological consequences. Various mechanisms are involved in neurodamage; cytokines, as well as genes that control their activity, are under a great concern today. However, there is little data about their role as predictors of the brain damage among children after hypoxia. Aim of the research. To identify the frequency of cytokine gene polymorphism: interleukin (IL)-1β(C-511T), IL-1β(C3953T), IL-4(C589T), IL-6(C174G), IL-10(C819T), IL-10(G1082A) among newborns with hypoxic events. Materials and methods. The study involved 128 full-term newborn patients with hypoxic events: the first group (n = 48) included newborns who experienced chronic intrauterine hypoxia (CVH), the second group (n = 80) included newborns born in asphyxiation. Control group (52) included babies born without asphyxia and not suffering from CVH. A retrospective analysis of case-records was carried out. The material for molecular genetic analysis was DNA samples isolated from umbilical cord blood leukocytes using DNA Express Blood reagents (Scientific and Production Company LITECH, Moscow). Results. Compared to the control group (p = 0.03) children born in asphyxia had their T allele IL-1β (C-511T) prevailed. The group of newborn who had CVH had their TT genotype (p = 0.04) and the T IL-1β allele (C-511T) (p = 0.01) prevailed compared to the control group. In the same study group while studying the polymorphism of the IL-1β gene, the T allele (p = 0.03) at the point C3953T prevailed, in contrast to the control group. Conclusion. Due to the fact that cytokines are part of a reaction cascade leading to the secondary brain damage, under the action of hypoxia, it was found that among newborns undergoing asphyxia and chronic intrauterine hypoxia the increased frequencies of carriage of IL-1β-511TT and IL-1β-3953TT genotypes, and IL-1β-511T and IL-1β-3953T alleles increase the risk of neurodamage.

This literature review deals with specifics of the natural course of inflammatory bowel disease (IBD) in patients from various ethnic groups and -308G/A and -238G/A promoter polymorphisms in tumor necrosis factor-alpha (TNF-α) gene. The search in PubMed, Medline, Еlibrary.ru databases has led to identify in total 20 studies, including 2 meta-analyses, on the role of TNF-α-308G/A and -238G/A gene polymorphism in the etiology and pathophysiology of IBD. The TNF-α-308G/A polymorphism is associated with increased secretion of this proinflammatory cytokine, whereas the TNF-α-238G/A genotype is characterized by reduced TNF-α secretion. A number of studies have shown an association between TNF-α-308G/A gene polymorphism and severe course of IBD, requiring more active treatment of patients (cytostatics, corticosteroids, biological agents). Some investigators have found that the patients carriers of TNF-α-308G/A had a higher probability of surgical interventions. The association between TNF-α-308G/A and the phenotypic characteristics of IBD has been identified in studies performed in Europe, Asia, and Russia. The association of this polymorphism with the prevalence of ulcerative colitis has been proven in some studies, in particular, in the Asian population. Similar associations have been noted in few publications originating from Europe and North America, while some studies have found no links between TNF-α-308G/A, -238G/A, and the course of IBD. TNF-α-238G/A gene polymorphism has not shown any significance for the prevalence and course of ulcerative colitis and Crohn's disease. One can assume that the differences in the study results arising from one and the same geographical area are related to genetic heterogeneity of the study groups, phenotypic variances between the study subjects, as well as relatively small sample sizes. Currently, the search for genetic, biochemical and other prognostic criteria for IBD course is in progress. There are studies in progress to investigate the mechanisms of transformation of the genetic information into the particulars of ulcerative colitis and Crohn's disease manifestations, with consideration of ethnicity.

Erysipelas is an actual problem of health care. It is characterized by consistently high morbidity, excepted tendency to recur, reduced the life quality and took important place in the structure of temporary disability. The changes of immunological reactivity, depended on genetic characteristics of the individual were established to play important role in the pathogenesis of erysipelas. The prediction of the course of erysipelas is unresolved problem yet. The genetic features of the organism, such as the genetic polymorphisms of some cytokines, involved on the prediction of the course of erysipelas. Investigations of TNFα genes demonstrated that their transcriptions increased and productions enhanced. Aim was to study the influence of polymorphism of TNFα gene promoter rs1800629 on the concentration of TNFα in the blood of healthy individuals and patients with erysipelas in primary and recurrent course. The study was performed at 104 patients with erysipelas (54 patients with primary erysipelas and 50 patients with recurrent course) and 94 healthy residents. Gene polymorphism of TNFα rs1800629 was detected by PCR method. Measurement of the concentration of TNFα was performed by immunoassay analysis. Homo- and heterozygous SNP of the TNFα rs1800629 gene were conformed to Hardy–Weinberg equilibrium (p > 0.05). Minor allele A was found to be registered in erysipelas patient less frequently by 2.9 times than in healthy individuals. The patients who carried homozygous G/G were observed in 88.7% of cases. At that heterozygous G/A were registered in any case. In other case, among the patients, no cases of the carriage of the mutant genotypes A/A were detected. Thus, allele G and genotypes G/G of promoter gene of TNFα rs1800629 predisposed to erysipelas. Heterozygous G/A of promoter gene of TNFα rs1800629 increased the risk of erysipelas. G-allele carrier led to decrease of TNFα concentration homozygous G/G patients.

Aim. To determine the frequency of polymorphism of calcium channels gene CACNA1C (rs1006737) in healthy individuals and patients with hypertension. Methods. 94 patients with arterial hypertension and 102 healthy residents were examined. The age ranged from 18 to 35 years. Detection of SNP calcium channel genes CACNA1C (rs1006737) was performed by real time PCR. Checking of sampling genotypes’ for being in Hardy-Weinberg equilibrium and χ2-test were performed, and hazards ratio (OR) was evaluated as well. Results. It was established that allele G of CACNA1C gene (rs1006737) was 1,3 times less frequent in patients with hypertension compared to control group, and its frequency was 0.58 vs. 0.76, respectively (χ2=14.42, р=0.0001). In patients with hypertension allele A was detected 1.75 times more often with the frequency 0.42, and in healthy individuals the frequency was 0.24 (χ2=14.42, р=0.0001). Use of general inheritance model demonstrated that G/G genotype was 1.5 times less frequent and A/A genotype was 3.2 times more frequent in patients with hypertension than in healthy individuals (χ2=12.75, р=0.002). The risk of hypertension development was higher in carriers of allele A (HR=2.3, 95% CI 1.49-3.53, p=0.0001) and genotype A/A (HR=3.9, 95% CI 1.49-9.68, p=0.002) of SNP gene of CACNA1C molecule (rs1006737). Conclusion. Allele A and genotype A/A SNP CACNA1C (rs1006737) are predisposing factors to the development of arterial hypertension, carriership of G allele and genotype G/G CACNA1C (rs1006737) reduces the risk of hypertension development.