title: Allelic variation of the matrix metalloproteinase-9 gene is associated with collagenous colitis.
abstract: BACKGROUND
  Collagenous colitis is a chronic inflammatory bowel disease of unknown origin characterized by a thickened subepithelial collagen layer. Differential expression of matrix-metalloproteinases (MMPs) have been implicated in the pathogenesis of collagenous colitis. The aim was to assess genetic polymorphisms of MMP-1, -7, and -9 in a case-control setting for susceptibility to collagenous colitis.
  
  
  METHODS
  Seventy-five patients with symptomatic collagenous colitis and 334 healthy blood donors were genotyped for single nucleotide polymorphisms (SNPs) in MMP-1-1607, MMP-7-153, MMP-7-181, and MMP-9 exon 6 using TaqMan technology. Susceptibility to collagenous colitis was tested by comparison of the carrier status of the rare allele.
  
  
  RESULTS
  The carrier frequency of the allele GG of the coding SNP MMP-9 in exon 6 was 24% in patients with collagenous colitis and 14.3% in healthy blood donors (P = 0.039). The carriage of the allele GG significantly increased the risk for collagenous colitis with an odds ratio of 1.9 (95% confidence interval: 1.0-3.5). None of the other SNPs of MMP-1, MMP-7-153, and MMP-7-181 were associated with collagenous colitis.
  
  
  CONCLUSIONS
  Allelic variation in the MMP-9 gene may be part of a complex genetic risk profile for collagenous colitis. Further studies are needed to confirm this observation and to explore the functional role of this gene polymorphism in collagenous colitis.
authors.affiliation: Medical Department I, Academic Teaching Hospital Siloah, Hannover, Germany. ahmed.madisch@krh.eu
authors.forename: Ahmed
authors.initials: A
authors.lastname: Madisch
authors.forename: Stephan
authors.initials: S
authors.lastname: Hellmig
authors.forename: Stephan
authors.initials: S
authors.lastname: Schreiber
authors.forename: Birgit
authors.initials: B
authors.lastname: Bethke
authors.forename: Manfred
authors.initials: M
authors.lastname: Stolte
authors.forename: Stephan
authors.initials: S
authors.lastname: Miehlke
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D016022:Case-Control Studies; D046729:Colitis, Collagenous / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008297:Male; D020780:Matrix Metalloproteinase 9 / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D011379:Prognosis; D016032:Randomized Controlled Trials as Topic; D012307:Risk Factors
chemical_list: D020780:Matrix Metalloproteinase 9