title: Association study of Wegener granulomatosis and the functionally relevant A645G polymorphism in the bactericidal/permeability increasing protein (BPI) gene.
abstract: In antineutrophil cytoplasmatic antibody (ANCA)-associated vasculitides (AAV), bactericidal/permeability increasing protein (BPI) ANCAs are detected. Recent observations suggest that BPI-ANCAs can potentially contribute to a proinflammatory setting in the absence of proteinase 3 (PRTN3) ANCAs during the development of a pulmonary relapse by impeding the elimination of Gram-negative bacteria (GNB). However, it is as yet not clear whether the genetic background contributes to the generation of BPI-ANCAs in Wegener granulomatosis (WG) or if BPI polymorphisms are associated with WG. In this study we genotyped the functionally relevant single nucleotide polymorphism (SNP) A645 (Glu216Lys) of the BPI gene in 201 WG patients and 608 healthy controls. To investigate whether further SNPs might be associated with WG, we also examined an intragenic microsatellite marker. No significant differences were found between patients and controls. Thus BPI polymorphisms do not appear to contribute to genetic predisposition to WG. Moreover, our data do not suggest a genetic background for the generation of BPI-ANCAs in WG.
authors.affiliation: Department of Human Genetics, Ruhr University, Bochum, Germany. peter.jagiello@rub.de
authors.forename: P
authors.initials: P
authors.lastname: Jagiello
authors.forename: W
authors.initials: W
authors.lastname: Klein
authors.forename: H
authors.initials: H
authors.lastname: Schultz
authors.forename: E
authors.initials: E
authors.lastname: Csernok
authors.forename: W L
authors.initials: WL
authors.lastname: Gross
authors.forename: J T
authors.initials: JT
authors.lastname: Epplen
mesh_terms: D019268:Antibodies, Antineutrophil Cytoplasmic / Q000032:analysis; D023181:Antimicrobial Cationic Peptides; D001798:Blood Proteins / Q000235:genetics*; D016022:Case-Control Studies; D004797:Enzyme-Linked Immunosorbent Assay; D019084:Fluorescent Antibody Technique, Indirect; D005787:Gene Frequency; D014890:Granulomatosis with Polyangiitis / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D018895:Microsatellite Repeats; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D019268:Antibodies, Antineutrophil Cytoplasmic; D023181:Antimicrobial Cationic Peptides; D001798:Blood Proteins; D008565:Membrane Proteins; C021623:bactericidal permeability increasing protein