Ethnic and Geographical Aspects of the Prevalence of the Polymorphic Variants of Genes Associated with Tuberculosis

Specificity of the structure of gene pools of different ethno-territorial groups of the human population can underlie the epidemiological features of the spread of tuberculosis (TB) and the structure of the genetic component of the susceptibility to the disease. The variability of 62 genetic variants potentially associated with the risk of the development of TB in the Russian population of the city of Tomsk has been studied and the differentiation of various ethno-territorial groups of the world by these markers has been assessed. The studied sample comprised 445 Russian residents of the city of Tomsk without bronchopulmonary pathology. For comparison, the data on the variability of the genetic markers of interest in 26 populations from the 1000 Genomes Project was involved. In the Tomsk population, only the ancestral allele was found for seven of the 58 SNPs studied; the allele frequencies for 36 markers were within the limits of the values seen in other European populations; for 12 SNPs, the observed frequencies were closer to populations with a significant Mongoloid component. By the total of the SNPs, the Tomsk population, despite the geographical distance from the rest of the European populations, did not differ from them (in genetic distances and G_st statistics), although it had some features of the gene pool. Intergroup differentiation of the world populations by these SNPs reflects mainly interracial differences. The greatest differences in the genetic structure between the studied populations were seen for the markers localized in intergenic regions. Statistically significant differences were found when comparing the levels of the average expected heterozygosity between groups of “L4 carrier populations” of mycobacteria and “non-L4” populations, which indicates the impact of the prevalence of different pathogenic lineages of M. tuberculosis on the formation of population specificity of the allelic frequencies.     

Polymorphisms of Tuberculosis Susceptibility Candidate Genes in the Slavonic Population of Siberia: A Pilot Study

The 469+14 G/C (INT4), 1465-85 G/A, and C274T polymorphisms of NRAMP1 and the A/C polymorphism of IL12 3"UTR were analyzed in ethnic Russians with (N = 58) or without (N = 127) tuberculosis (TB) from Tomsk. On evidence of allele and genotype frequencies, none of the polymorphisms was associated with TB. In the healthy controls, the three NRAMP1 polymorphisms were in linkage disequilibrium with each other (p < 0.001) but not with the IL12 polymorphism. Still the four polymorphisms are potentially informative as concerns their association with TB.     

Polymorphisms of the candidate genes for genetic susceptibility to tuberculosis in the Slavic population of Siberia: a pilot study

The 469 + 14 G/C (INT4), 1465 - 85 G/A, and C274T polymorphisms of NRAMP1 and the A/C polymorphism of IL12 3'-UTR were analyzed in ethnic Russians with (N = 58) or without (N = 127) tuberculosis (TB) from Tomsk. On evidence of allele and genotype frequencies, none of the polymorphisms was associated with TB. In the healthy controls, the three NRAMP1 polymorphisms were in linkage disequilibrium with each other (P < 0.001) but not with the IL12 polymorphism. Still the four polymorphisms are potentially informative as concerns their association with TB.     

Effects of intranasal administration of 5-hydroxytryptamine-modulin endogenous serotonergic modulator on rat behavior

This article presents the study of the effects of 5-hydroxytryptamine-modulin??a poorly studied endogenous peptide (Leu-Ser-Ala-Leu)??which specifically interacts with 5-HT1_B-auto- and heteroreceptors. Data obtained in the experiments on rats suggest prolonged anxiolytic and antidepressive effect of intranasal 5-HT-modulin administration and give evidence to an essential role of endogenous 5-HT-modulin in the regulation of anxiety and depression.     

Validation of the Results of Genome-Wide Association Studies of Tuberculosis in Russians of West Siberia

The genetically mediated ability of the host to provide an adequate immune response to the pathogen plays an important role in the development of tuberculosis infection. Genome-wide association studies performed in different populations revealed the association of a number of chromosomal regions with the development of tuberculosis (TB). At the same time, full characteristics of the factors of genetic susceptibility to the disease remains an unresolved problem, and the associations identified are not always reproduced in studies in other populations. A total of 45 single nucleotide polymorphisms (SNPs) were analyzed in 768 individuals, including 323 tuberculosis patients and 445 healthy individuals. Analysis of associations of tuberculosis with genetic markers was carried out using logistic regression. Permutations were used to account for multiple comparisons. Nominal statistically significant association with tuberculosis was detected for two SNPs, rs10515787 (intronic variant of the EBF1 gene) and rs10956514 (intronic variant of the ASAP1 gene) (p = 0.005 and 0.049, respectively). After the permutation test, only one of the associations was preserved, for rs10515787 (p = 0.003). Thus, in Russians from the city of Tomsk, the association of rs10515787 at the EBF1 gene with the development of tuberculosis was confirmed. However, the results of this study identify rare A allele as a risk factor for the development of TB, while in an earlier study, it was identified as being protective relative to the risk for developing of tuberculosis. The revealed “reverse association” is an interesting fact that requires further investigation.     

The Frequencies of Alleles of Single Nucleotide Substitutions in the CCK and CCK2R Genes in Some Russian Cattle Breeds

Russian Journal of Genetics - Allele frequencies of three substitutions in the CCK (rs42891945 and rs42891946) and CCKBR (rs42670352) genes were identified in three Russian cattle breeds: Holstein...     

Use of qPCR-Based Cercariometry to Assess Swimmer’s Itch in Recreational Lakes

Swimmer’s itch (cercarial dermatitis) is a nuisance encountered by bathers and recreational water users worldwide. The condition is caused by the penetration of larval digenean trematodes (cercariae) of the family Schistosomatidae, into the skin, following their release into freshwater from pulmonate snails that serve as the intermediate hosts for these parasites. This study utilizes qPCR-based cercariometry to monitor and quantify cercariae from water samples collected at 5 lakes in northern Michigan. The resolution provided by qPCR facilitated assessment of the environmental and biological drivers of swimmer’s itch-causing cercariae concentrations, allowing us to demonstrate that cercarial abundance is greatest at the top of the water column, in locations with prevailing on- and alongshore winds.