title: Association study with Wegener granulomatosis of the human phospholipase Cgamma2 gene.
abstract: BACKGROUND
  Wegener Granulomatosis (WG) is a multifactorial disease of yet unknown aetiology characterized by granulomata of the respiratory tract and systemic necrotizing vasculitis. Analyses of candidate genes revealed several associations, e.g. with alpha(1)-antitrypsin, proteinase 3 and with the HLA-DPB1 locus. A mutation in the abnormal limb mutant 5 (ALI5) mouse in the region coding for the hydrophobic ridge loop 3 (HRL3) of the phospholipaseCgamma2 (PLCgamma-2) gene, corresponding to human PLCgamma-2 exon 27, leads to acute and chronic inflammation and granulomatosis. For that reason, we screened exons 11, 12 and 13 coding for the hydrophobic ridge loop 1 and 2 (HRL1 and 2, respectively) and exon 27 of the PLCgamma-2 protein by single strand conformation polymorphism (SSCP), sequencing and PCR/ restriction fragment length polymorphism (RFLP) analyses. In addition, we screened indirectly for disease association via 4 microsatellites with pooled DNA in the PLCgamma-2 gene.
  
  
  RESULTS
  Although a few polymorphisms in these distinct exons were observed, significant differences in allele frequencies were not identified between WG patients and respective controls. In addition, the microsatellite analyses did not reveal a significant difference between our patient and control cohort.
  
  
  CONCLUSIONS
  This report does not reveal any hints for an involvement of the PLCgamma-2 gene in the pathogenesis of WG in our case-control study.
authors.affiliation: Department of Human Genetics, Ruhr-University Bochum Germany. peter.jagiello@rub.de
authors.forename: Peter
authors.initials: P
authors.lastname: Jagiello
authors.forename: Stefan
authors.initials: S
authors.lastname: Wieczorek
authors.forename: Philipp
authors.initials: P
authors.lastname: Yu
authors.forename: Elena
authors.initials: E
authors.lastname: Csernok
authors.forename: Wolfgang L
authors.initials: WL
authors.lastname: Gross
authors.forename: Joerg T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D000483:Alleles; D053301:B-Cell Maturation Antigen / Q000235:genetics; D016022:Case-Control Studies; D005838:Genotype; D014890:Granulomatosis with Polyangiitis / Q000201:enzymology* / Q000235:genetics*; D006801:Humans; D020407:Internet; D018895:Microsatellite Repeats; D009687:Nuclear Proteins / Q000235:genetics; D051966:Phospholipase C gamma / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D015534:Trans-Activators / Q000235:genetics
chemical_list: D053301:B-Cell Maturation Antigen; C083728:MHC class II transactivator protein; D009687:Nuclear Proteins; C086966:TNFRSF17 protein, human; D015534:Trans-Activators; D051966:Phospholipase C gamma