Zur Bedeutung des SNP309 des Mdm2-Gens für die CVID und die rheumatoide Arthritis

摘要: A single nucleotide polymorphism (exchange of a base) in the prormoter region Mdm2 gene (SNP309) was first described 2004. It shown that change from Thymine to Guanine at position 309 intron caused higher affinity promoter for transcription factor Sp1. Thus is facilitated. well known as one most important negative regulators tumor suppressor p53. Accordingly, an increased synthesis suppresses cellular p53 signalling. The consequence is, DNA-damaged cells are less efficiently repaired or eliminated and thus more prone development. In addition serves antagonist NfκB, determining course inflammations. P53 suppression therefore causes sensitive reaction towards inflammatory reaction. We asked whether by SNP309 could be associated with development chronic inflammations, especially inflammations linked activity NfκB. Rheumatoid Arthritis lymphadenophathy, splenomegaly granulomatous disease patients CVID (common variable immunodeficiency) were chosen examples such diseases. First genotype distribution among Europeans analysed. results obtained, failed differ those North Americans group discovered (p = 0,299). 52 0,743) showed also no difference compared healthy Europeans. Similarly association lymphadenopathy 0,282), 0,806) 0,422) detectable. Interestingly, often detected people (healthy people: G/T 49,3 %, G/G 14,2 %; RA: 42,2 10,9 p= 0,046). Gender-dependent stratification differences female 0,043). No between distributions males 0,577). Increased Mdm2-levels might