[The role of genetic factors in the development of chronic dust bronchitis in workers of coal mining enterprises of Kuzbass].

The distribution of genotypes of HP, GC, EsD, AsP and polymorphisms GSTT1 (GST-theta1) and GSTM1 (GST-micro1) and NOS3 (polymorphism VNTR4) in miners with chronic dust bronchitis, and in those without this occupational disease has been studied The carriers of genotypes of genotypes EsD 1-2, AsP bb were shown to be more prone to develop chronic dust bronchitis. Endogenous factors of resistance to the disease are the genotypes GC 1-1, EsD 1-1, AsP bc.

[Chronic occupational bronchitis in workers of coal extracting enterprises in Kouzbass: role of endogenous factors].

The authors studied distribution of biochemical markers for HP, GC, EsD, AcP genes, polymorphism of GSTT1 (GST-theta 1), GSTM1 (GST-mu 1), locus WNTR of NOS3 gene (alleles A/B) in chronic dust bronchitis patients and in apparently healthy individuals. Genotypes EsD 1-2 and AcP bb individuals were proved to be most prone to the disease. Endogenous resistent factors for chronic dust bronchitis are genotypes GC 1-1, EsD 1-1, AcP bc.

[Influence of polymorphism of immune defense modifier genes on celiac disease development and various clinical features of disease in Tomsk population].

The results of investigation of influence of immune defense modifier genes polymorphism: IL1B (+3953A1/A2), IL1RN (VNTR), IL4A (3'-UTR G/C), IL4RA (I50V), IL12B (1188A/C) and VDR (F/f and B/b) on celiac disease development and various clinical features of disease are presented. The study was performed in 49 families with proband affected by celiac disease (139 people) and 129 unaffected controls of Russian ethnicity from Tomsk. No associations were shown between these alleles and celiac disease by case-control study. However, in family-based investigation, the association was detected for 3'-UTR G/C polymorphism of IL4 gene (p = 0.024). Furthermore, for this polymorphic variant the associations with atypical form of the disease was shown (p = 0.001), as well as with osteopenic (p = 0.039) and thyriopatic (p = 0.042) complications of celiac disease. Association with clinical course of the disease (typical form) was obtained for 150V polymorphism of IL4RA gene and for F/f polymorphism of VDR gene (p = 0.001 and p = 0.009, respectively). Thus, in this investigation it was detected that the associations with the studied phenotypes were found mainly for polymorphic variants of Th2-immunity genes.

[A comparative analysis of tuberculosis susceptibility genetic make-up in Tuvinians and Russians].

The results of the first Russian study of polymorphisms of tuberculosis (TB) susceptibility genes SLC11A1, VDR, IL12B, IL1B, IL1RN in Tuvinians from Tuva Republic and Russians from Tomsk city are presented. In Tuvinians, as compared with Russians, the significantly higher prevalence of potentially disease-associated alleles of the genes studied was shown: SLC11A1*543N (0.139 and 0.043, respectively, p = 4.6E-5), IL12B*1188C (0.378 and 0.174, respectively, p = 1.1E-8), VDR*b (0.825 and 0.532, respectively, p = 3.2E-16), IL1B*(+3953A1) (0.865 and 0.806, respectively, p = 0.035). However, no one of these alleles was associated with TB in Tuvinians, whereas, in Russians TB patients, in comparison with the controls, there was a higher prevalence of the following markers: IL1RN*A2 (0.258 and 0.186, respectively, p = 0.024), SLC11A1*274T (0.251 and 0.164, respectively, p = 0.009), IL12B*1188C (0.240 and 0.174, respectively, p = 0.044), ILIB*(+3953A2) (0.259 and 0.194, respectively, p = 0.044). Distinct patterns of linkage disequilibrium between pairs of the polymorphisms studied in Tuvinians and Russians were shown. At whole, the data obtained demonstrate the ethnic specificity of the distribution and pathogenetic significance of the alleles of the TB susceptibility genes.

[Pulmonary tuberculosis in the indigenous population in the Republic of Tyva: clinical and social aspects].

The Republic of Tyva is a most poor tuberculosis region in the Russian Federation. The main epidemiological indices of this disease are 2.5-3 times greater than the average indices in Russia. A clinicoepidemiological analysis was conducted in the Tuvinians suffering from tuberculosis. Overall, the clinical picture of the nosological entities of pulmonary tuberculosis among the indigenous population corresponds to the present views of the pathomorphism of the disease. Essential epidemiological factors, such as the duration of the disease, the method of its detection, and comorbidity, are responsible for the development of the clinical signs of tuberculosis.

[Polymorphisms of the candidate genes for genetic susceptibility to tuberculosis in the Slavic population of Siberia: a pilot study]. / Polimorfizm genov-kandidatov podverzhennosti k tuberkulezy u slavianskogo naseleniia Sibiri: pilotnoe issledovanie.

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.

[The 1188 A/C ILI2B gene polymorphism in patients with multiple sclerosis and in healthy subjects of Tomsk region].

Multiple sclerosis (MS) is a multifactorial and polygenic disorder of the central nervous system, its development being under strong influence of T-helpers type I which produce anti-inflammation cytokines. Interleukin 12 (IL12) plays a key role in such polarization of the immune response. Genotyping for polymorphism of the IL12B gene in the 3'-untranslated region, coding for the p40(IL12B) subunit, has been carried out in 62 patients with MS and 129 healthy controls. The C/C genotype frequency was twice higher in patients as compared to the controls (33.9% and 17.4%, respectively). The allele C in patients was associated with shorter duration of the first remission (p = 0.028) which was 1.79 +/- 0.28 in those with the C allele and 3.27 +/- 0.68 in other patients. Mean rate of relapses per year was also higher (p = 0.079) in patients with the C allele (0.96 +/- 0.11) comparing with the A allele (0.72 +/- 0.11). During the treatment with copaxone, a trend towards increasing of the time before the first relapse was observed in patients with the C allele. An analysis of immunologic indices revealed that they changed in opposite directions depending on the gene variant. The C-allele is suggested to have relation both to liability to MS and to its pathogenesis.