title: A polymorphism of the bactericidal/permeability increasing protein (BPI) gene is associated with Crohn's disease.
abstract: BACKGROUND
  The bactericidal/permeability increasing protein (BPI) is involved in the elimination of gram-negative bacteria. A functionally relevant single nucleotide polymorphism of the BPI gene causes an amino acid exchange (Glu216Lys).
  
  
  METHODS
  To evaluate whether this single nucleotide polymorphism contributes to the predisposition to inflammatory bowel disease, we compared the allele frequencies of 265 patients with Crohn's disease, 207 patients with ulcerative colitis, and 608 healthy controls.
  
  
  RESULTS
  The Glu/Glu genotype frequency was decreased significantly in Crohn's disease patients as compared with controls (P < 0.027). No differences were obvious in patients with ulcerative colitis.
  
  
  CONCLUSIONS
  Failure of the innate intestinal immune system could be involved in the pathogenesis of Crohn's disease via reduced/impaired defense against gram-negative bacteria.
authors.affiliation: Department of Human Genetics, Ruhr-University, Bochum, Germany.
authors.forename: Wolfram
authors.initials: W
authors.lastname: Klein
authors.forename: Andreas
authors.initials: A
authors.lastname: Tromm
authors.forename: Christian
authors.initials: C
authors.lastname: Folwaczny
authors.forename: Michaela
authors.initials: M
authors.lastname: Hagedorn
authors.forename: Natascha
authors.initials: N
authors.lastname: Duerig
authors.forename: Joerg
authors.initials: J
authors.lastname: Epplen
authors.forename: Wolff
authors.initials: W
authors.lastname: Schmiegel
authors.forename: Thomas
authors.initials: T
authors.lastname: Griga
mesh_terms: D000483:Alleles; D023181:Antimicrobial Cationic Peptides; D001798:Blood Proteins / Q000235:genetics*; D003092:Colitis / Q000097:blood / Q000235:genetics*; D003424:Crohn Disease / Q000097:blood / Q000235:genetics*; D004247:DNA / Q000032:analysis; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D020641:Polymorphism, Single Nucleotide
chemical_list: D023181:Antimicrobial Cationic Peptides; D001798:Blood Proteins; D005819:Genetic Markers; D008565:Membrane Proteins; C021623:bactericidal permeability increasing protein; D004247:DNA