POLIMORFIZMI GENA ZA PROTEIN VISOKE POKRETLJIVOSTI IZ SKUPINE 1 (HMGB1) U DJECE OBOLJELE OD IgA VASKULITISA (HENOCH-SCHÖNLEINOVE PURPURE (HSP)) ; High-mobility group box-1 gene (HMGB1) polymorphisms in children with IgA vasculitis (Henoch-Schönlein purpura (HSP))""
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Medientyp:
E-Book
Titel:
POLIMORFIZMI GENA ZA PROTEIN VISOKE POKRETLJIVOSTI IZ SKUPINE 1 (HMGB1) U DJECE OBOLJELE OD IgA VASKULITISA (HENOCH-SCHÖNLEINOVE PURPURE (HSP)) ; High-mobility group box-1 gene (HMGB1) polymorphisms in children with IgA vasculitis (Henoch-Schönlein purpura (HSP))""
Erschienen:
[Erscheinungsort nicht ermittelbar]: Sveučilište Josipa Jurja Strossmayera u Osijeku. Medicinski fakultet Osijek.; Josip Juraj Strossmayer University of Osijek. Faculty of Medicine Osijek., 2021
Sprache:
Kroatisch
Entstehung:
Hochschulschrift:
Dissertation, Sveučilište Josipa Jurja Strossmayera u Osijeku. Medicinski fakultet Osijek.; Josip Juraj Strossmayer University of Osijek. Faculty of Medicine Osijek., 2021
Anmerkungen:
Beschreibung:
IgA vaskultis (IgAV) ili Henoch-Schönleinova purpura najčešći je sistemski vaskulitis malih krvnih žila u dječjoj dobi. Protein visoke pokretljivosti iz skupine 1 (engl. high mobility group box-1 protein, HMGB1) pleiotropni je citokin koji djeluje kao proupalni signal, važan za aktivaciju antigen prezentirajućih stanica i širenje upale. HMGB1 ima ulogu u patofiziologiji različitih upalnih bolesti. Cilj ovog istraživanja bio je istražiti povezanost četiri polimorfizma jednog nukleotida gena za HMGB1 (rs1045411, rs1060348, rs2249825 i rs41369348), s predispozicijom za IgAV i kliničkom slikom bolesnika koji ispunjavaju kriterije za IgAV. DNA je ektstrahirana iz krvnih stanica 81 djeteta s IgAV-om i 151 zdravih kontrola, koji su bili bez poznatih autoimunih bolesti. Klinički podaci i laboratorijski parametri prikupljeni su za sve bolesnike s IgAV-om. Nije utvrđen povećan omjer izgleda za nastanak IgAV-a s obzirom na analizirane polimorfizme gena za HMGB1, niti za pojavu nefritisa ili zglobnih manifestacija bolesti. Nositelji heterozigotnog genotipa C/T polimorfizma rs1045411 gena za HMGB1 čini se da imaju manje izgleda za razvoj GI manifestacija u sklopu IgAV-a. Alel T polimorfizma rs1045411 i alel C polimorfizma rs2249825 gena za HMGB1 čini se da povećavaju izglede za razvoj generaliziranog osipa u sklopu IgAV-a. Nositelji recesivnog homozigotnog genotipa T/T i heterozigotnog genotipa C/T polimorfizma rs1045411 te recesivnog homozigotnog genotipa C/C i heterozigotnog genotipa G/C polimorfizma rs2249825 čini se da imaju manje izgleda za razvoj generaliziranog osipa u sklopu IgAV-a. Zaključno, u ovom istraživanju nije nađena povezanost polimorfizama gena za HMGB1 s predispozicijom za nastanak IgAV-a u djece, ali pojedini genotipovi i aleli polimorfizma rs1045411 i rs2249825 čini se da imaju utjecaj na kliničke manifestacije IgAV-a. ; IgA vasculitis (IgAV) or Henoch-Schönlein'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.