A polymorphism of the bactericidal/permeability increasing protein (BPI) gene is associated with Crohn's disease.
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.
Klein
Wolfram
W
Department of Human Genetics, Ruhr-University, Bochum, Germany.
Tromm
Andreas
A
Folwaczny
Christian
C
Hagedorn
Michaela
M
Duerig
Natascha
N
Epplen
Joerg
J
Schmiegel
Wolff
W
Griga
Thomas
T
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
D023181:Antimicrobial Cationic Peptides; D001798:Blood Proteins; D005819:Genetic Markers; D008565:Membrane Proteins; C021623:bactericidal permeability increasing protein; D004247:DNA