POLIMORFIZMI GENA ZA PROTEIN VISOKE POKRETLJIVOSTI IZ SKUPINE 1 (HMGB1) U DJECE OBOLJELE OD IgA VASKULITISA (HENOCH-SCHÖNLEINOVE PURPURE (HSP))

IgA vasculitis (IgAV) or Henoch-Schonlein's purpura is the most prevalent systemic small vessel vasculitis in childhood. High mobility group box-1 protein (HMBG1) is a pleiotropic cytokine that functions as a pro-inflammatory signal, important for the activation of antigen-presenting cells (APCs) and propagation of inflammation. HMGB1 is implicated in the pathophysiology of a variety of inflammatory diseases. The aim of this study was to investigate the role of four single nucleotide polymorphism (SNP) for HMGB1 gene (rs1045411, rs1060348, rs2249825 i rs41369348) in the susceptibility and clinical features of patients fulfilling classification criteria for IgAV. DNA was extracted from blood cells of 81 children with IgAV and 151 healthy controls, who were without known autoimmune diseases. Clinical data and laboratory parameters were collected for all IgAV patients. In this study analyzed polymorphisms for HMGB1 gene were not associated with increased susceptibility to childhood IgAV, neither for the occurrence of nephritis or joint involment. Heterozygote C/T carriers of rs1045411 polymorphism might less likely develop gastrointestinal manifestation within IgAV. The T allele of the rs1045411 polymorphism and the C allele of the rs2249825 polymorphism might increase the prospects of developing generalized rash within IgAV. Recessive homozygote T/T and heterozygote C/T carriers of rs1045411 and recessive homozygote C/C and heterozygote G/C carriers of rs2249825 polymorphisms might less likely develop generalized rash within IgAV. In conclusion, in this study no association of HMGB1 gene polymorphisms with a predisposition to IgAV in children was found, but individual genotypes and alleles of the rs1045411 and rs2249825 polymorphisms might affect clinical manifestations of IgAV.