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Allelic variation of the matrix metalloproteinase-9 gene is associated with collagenous colitis

Madisch, Ahmed MD1,*; Hellmig, Stephan MD2; Schreiber, Stephan MD3; Bethke, Birgit MD4; Stolte, Manfred MD4; Miehlke, Stephan MD6

doi: 10.1002/ibd.21640
Original Article: Original Basic Science Articles

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. (Inflamm Bowel Dis 2011;)

1Medical Department I, Academic Teaching Hospital Siloah, Hannover, Germany

2Medical Department, Schlei-Klinikum, Schleswig, Germany

3Department of General Internal Medicine, University Hospital of Schleswig-Holstein, Campus Kiel, Germany

4Institute for Pathology, Klinikum Kulmbach, Kulmbach, Germany

6Center for Digestive Diseases, Cooperation of Internal Medicine, Hamburg, Germany

*Reprints: Medical Department I, Academic Teaching Hospital, KRH Clinic Siloah, Roesebeckstrasse 15, Hannover, Germany


Received 27 December 2010; Accepted 3 January 2011

Published online 8 February 2011 in Wiley Online Library (

© Crohn's & Colitis Foundation of America, Inc.
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