Objective ― The aim of the work was to study the contribution of the immune response mediator genes polymorphism (TNFA rs1800629, LTA rs909253, IL1B rs16944, IL2-IL21 rs6822844, IL2RA rs2104286, IL6 rs1800795, IL10 rs1800872, MIF rs755622, CTLA4 rs3087243, NFKB1 rs28362491, PTPN22 rs2476601, PADI4 rs2240336) to the formation of the predisposition to juvenile idiopathic arthritis (JIA) and its clinical variants. Material and Methods ― The JIA group included 330 patients and the control group – 342 volunteers without autoimmune diseases from the Republic of Bashkortostan, Russia. Genotyping was conducted by the real-time polymerase chain reaction. Results ― Taking into account the differences by sex, it was established, that the alleles/genotypes of the TNFA rs1800629, LTA rs909253, IL2-IL21 rs6822844, PTPN22 rs2476601 polymorphic loci and the TNFA rs1800629*G – LTA rs909253*G haplotype are associated with the development of JIA as a whole (p<0.05); alleles/genotypes of the LTA rs909253, IL1B rs16944, IL2-IL21 rs6822844, IL2RA rs2104286, IL6 rs1800795, IL10 rs1800872, MIF rs755622, CTLA4 rs3087243, NFKB1 rs28362491, PTPN22 rs2476601 polymorphic loci and the TNFA rs1800629*G – LTA rs909253*G haplotype – with some of JIA clinical variants (p<0.05). Conclusion ― In this work, the relationship of the alleles, genotypes and haplotypes of a number of the immune response mediator genes polymorphic loci with the risk of the development of JIA and its clinical variants was established. Specific associations were observed for girls and boys, which indicates the existence of sexual dimorphism in the JIA pathogenesis.

Objective-The aim of the study was to investigate the relationship of the alleles and genotypes of the immune response mediator genes polymorphic loci (rs1800629, rs909253, rs16944, rs6822844, rs2104286, rs1800795, rs1800872, rs3087243, rs755622 rs28362491, rs2240336, rs2476601) with the etanercept efficacy in juvenile idiopathic arthritis (JIA) patients. Material and Methods-The study included 39 JIA patients from Bashkortostan, Russia. Achieving the American College of Rheumatology Pediatric 70 (ACR Pedi 70) response was regarded as the presence of the response to etanercept (otherwise-as the absence), while achieving clinical remission on medication-as the sufficient response (otherwise-as the insufficient). Genotyping was performed using real-time polymerase chain reaction method. Results-The predictors of an increased risk of the non-response to etanercept were the IL1B rs16944*TT (p cor =0.023), NFKB1 rs28362491*II (p cor =0.042) genotypes, and of the increased risk of the insufficient response to etanercept-the IL2RA rs2104286*AA (p cor =0.010), NFKB1 rs28362491*II (p cor =0.026) genotypes. The markers of the decreased risk of the non-response to etanercept were the IL1B rs16944*C (p cor =0.046), NFKB1 rs28362491*D (p cor =0.029) alleles, and of the decreased risk of the insufficient response to etanercept-the IL2RA rs2104286*AG genotype (p cor =0.049), IL2RA rs2104286*G allele (p cor =0.005). Conclusion-In this study the association of the alleles and genotypes of the IL1B rs16944, IL2RA rs2104286, NFKB1 rs28362491 polymorphic loci with the etanercept efficacy in JIA patients was established.

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Background/aim: The aim of the study was to analyze the relationship of the immune response mediator genes' polymorphic loci (TNFA rs1800629, LTA rs909253, IL1B rs16944, IL2-IL21 rs6822844, IL2RA rs2104286, IL6 rs1800795, IL10 rs1800872, MIF rs755622, CTLA4 rs3087243, NFKB1 rs28362491, PTPN22 rs2476601, PADI4 rs2240336) variants with the methotrexate efficacy in juvenile idiopathic arthritis (JIA). Materials and methods: The study included 274 JIA patients from the Republic of Bashkortostan, Russia. Achieving the American College of Rheumatology Pediatric 30 (ACR Pedi 30) response was regarded as the presence of the response to methotrexate (otherwise, as the absence), while achieving clinical remission on medication (Wallace et al., 2011)-as the sufficient response (otherwise, as the insufficient). Genotyping was conducted by the real-time polymerase chain reaction. Results: Associations with an altered risk of the nonresponse to methotrexate in JIA were observed for the alleles/genotypes of the loci IL10 rs1800872 (in girls) and NFKB1 rs28362491 (in girls); with an altered risk of the insufficient response to methotrexate in JIA-for the alleles/genotypes of the loci IL1B rs16944 (in boys), CTLA4 rs3087243 (in boys), NFKB1 rs28362491 (in girls) and the haplotype TNFA rs1800629*A-LTA rs909253*G (in girls). Conclusion: As a result of the study, the relationship of the alleles/genotypes of the IL1B rs16944, IL10 rs1800872, CTLA4 rs3087243, NFKB1 rs28362491 polymorphic loci and the TNFA rs1800629*A-LTA rs909253*G haplotype with the methotrexate efficacy in JIA was established (taking into account the differences by sex).

The aim of the study was to analyze the relationship of the polymorphic locus of the immune response mediator gene NFKB1 rs28362491 with the effectiveness of methotrexate therapy in a group of patients with RF-negative polyarticular form of juvenile arthritis (SA). The study involved 67 patients with a diagnosis of RF-negative polyarticular UA living in the Republic of Bashkortostan. Genotyping of all patients by polymorphic locus NFkB1 rs28362491 was carried out using polymerase chain reaction (PCR) in real time. The study of the polymorphic locus NFKB1 -94I/D in a group of patients with RF-negative polyarticular form of SA revealed a tendency to lack of response to methotrexate therapy in individuals with the genotype NFKB1 -94DD.