STUDY OF INFLUENCE OF IMMUNE AND INFLAMMATORY RESPONSE GENE POLYMORPHISM (STAT4, PD-1, PD-L1) ON THE RISK OF DEVELOPMENT OF SYSTEMIC LUPUS ERYTHEMATOSUS (SLE) IN CHILDREN
Objective. To analyze the results of genotyping in children suffering from SLE and SLE with lupus nephritis (LN) at the loci STAT4 (rs3821236), PD-1 (rs11568821), PD-L1 (rs2297136) in comparison with the control group of children without autoimmune and inflammatory diseases. Materials and methods. Patients from the National Center for Pediatric Nephrology and Renal Replacement Therapy and Cardiology Department of the “2nd Children's Clinical Hospital” Minsk with established diagnoses of SLE (n=7), SLE with lupus nephritis (n=18) and control (children without autoimmune and inflammatory diseases [n = 7-80]). Object of study - genomic DNA isolated from samples of peripheral whole blood using the standard phenol-chloroform method. Results. Frequency of STAT4 (rs3821236), PD-1 (rs11568821), PD-L1 (rs2297136) gene polymorphisms was studied in children with systemic lupus erythematosus without renal manifestations and with nephritis (n = 25) and in the controls (n = 80). Conclusion. Analysis of genotype/allele frequency distribution of rs3821236 STAT4 revealed that genotypes containing at least one minor allele (GA+AA) are associated with SLE (p = 0,04 OR 2,54 [1,04-6,41]). Our findings are of the potential practical value for diagnostics. No differences of statistical significance between examined sets of patients and controls were found in our analysis of genotype and allele frequency distribution of PDCD1 (rs11568821), PD-L1 (rs2297136) polymorphisms.