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Irritable bowel syndrome

Disease ID:512
Name:Irritable bowel syndrome
Associated with:4 targets
2 immuno-relevant targets
Database Links
Disease Ontology: DOID:9778


Comments:  Mucosal expression of GPR161 expression was decreased after infection with Campylobacter jejuni in postinfectious irritable bowel syndrome.
References:  8
Role:  Functional analyses by radioligand binding assays revealed that the -42T allele causes significant up-regulation of 5-HT3A receptor cell surface expression associcated with IBS-D.
Comments:  This is the first evidence for an association of a functional variant dbSNP:rs62625044 in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome.
References:  2
Mutations:  5-HT3A is associated with 1 mutation. Click here for details
Comments:  MMP3 has been shown to be causative in the tissue injury in IBD. Several functional polymorphisms in the promoter region of the MMP3 gene are associated with increased susceptibility to IBD.
Comments:  MMP9 is suggested to be implicated in fistula formation in IBD. Upregulated mucosal MMP9 expression correlates with disease severity. MMP9 selective inhibitors are in development for the treatment of IBD.


No ligand related data available for Irritable bowel syndrome


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1. Juran BD, Atkinson EJ, Schlicht EM, Larson JJ, Ellinghaus D, Franke A, Lazaridis KN. (2011) Genetic polymorphisms of matrix metalloproteinase 3 in primary sclerosing cholangitis. Liver Int, 31 (6): 785-91. [PMID:21134112]

2. Kapeller J, Houghton LA, Mönnikes H, Walstab J, Möller D, Bönisch H, Burwinkel B, Autschbach F, Funke B, Lasitschka F et al.. (2008) First evidence for an association of a functional variant in the microRNA-510 target site of the serotonin receptor-type 3E gene with diarrhea predominant irritable bowel syndrome. Hum Mol Genet, 17 (19): 2967-77. [PMID:18614545]

3. Kirkegaard T, Hansen A, Bruun E, Brynskov J. (2004) Expression and localisation of matrix metalloproteinases and their natural inhibitors in fistulae of patients with Crohn's disease. Gut, 53 (5): 701-9. [PMID:15082589]

4. Lakatos G, Sipos F, Miheller P, Hritz I, Varga MZ, Juhász M, Molnár B, Tulassay Z, Herszényi L. (2012) The behavior of matrix metalloproteinase-9 in lymphocytic colitis, collagenous colitis and ulcerative colitis. Pathol Oncol Res, 18 (1): 85-91. [PMID:21678108]

5. Marshall DC, Lyman SK, McCauley S, Kovalenko M, Spangler R, Liu C, Lee M, O'Sullivan C, Barry-Hamilton V, Ghermazien H et al.. (2015) Selective Allosteric Inhibition of MMP9 Is Efficacious in Preclinical Models of Ulcerative Colitis and Colorectal Cancer. PLoS ONE, 10 (5): e0127063. [PMID:25961845]

6. Pender SL, Croucher PJ, Mascheretti S, Prothero JD, Fisher SA, MacDonald TT, Schreiber S, Ye S. (2004) Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease. J Med Genet, 41 (9): e112. [PMID:15342709]

7. Pender SL, Tickle SP, Docherty AJ, Howie D, Wathen NC, MacDonald TT. (1997) A major role for matrix metalloproteinases in T cell injury in the gut. J Immunol, 158 (4): 1582-90. [PMID:9029093]

8. Swan C, Duroudier NP, Campbell E, Zaitoun A, Hastings M, Dukes GE, Cox J, Kelly FM, Wilde J, Lennon MG et al.. (2013) Identifying and testing candidate genetic polymorphisms in the irritable bowel syndrome (IBS): association with TNFSF15 and TNFα. Gut, 62 (7): 985-94. [PMID:22684480]