Association study with Wegener granulomatosis of the human phospholipase Cgamma2 gene

J Negat Results Biomed. 2005 Feb 9;4:1. doi: 10.1186/1477-5751-4-1.

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.

Conclusion: 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.

MeSH terms

  • Alleles
  • B-Cell Maturation Antigen / genetics
  • Case-Control Studies
  • Genotype
  • Granulomatosis with Polyangiitis / enzymology*
  • Granulomatosis with Polyangiitis / genetics*
  • Humans
  • Internet
  • Microsatellite Repeats
  • Nuclear Proteins / genetics
  • Phospholipase C gamma / genetics*
  • Polymorphism, Single Nucleotide / genetics
  • Trans-Activators / genetics

Substances

  • B-Cell Maturation Antigen
  • MHC class II transactivator protein
  • Nuclear Proteins
  • TNFRSF17 protein, human
  • Trans-Activators
  • Phospholipase C gamma