Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease
Pender, S.L.F., Croucher, P.J., Mascheretti, S., Prothero, J.D., Fisher, S.A., MacDonald, T.T., Schreiber, S. and Ye, S. (2004) Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease. Journal of Medical Genetics, 41, (9), e112. (doi:10.1136/jmg.2004.023572).
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Description/Abstract
Crohn’s disease (MIM 266600) and ulcerative colitis (MIM 191390) are the major forms of inflammatory bowel disease (MIM 601458), the prevalence of Crohn’s disease being more than 1/1000 in the Western countries.1 Inflammatory bowel disease is characterised by chronic relapsing intestinal inflammation, and its pathogenesis probably involves microbial, immunological, environmental, and genetic factors.2,3 Recent genetic association studies have shown that sequence variations in the Caspase Activating Recruitment Domain (CARD15) gene (MIM605956, formerly named NOD2) on chromosome 16q are a strong genetic factor for Crohn’s disease but not for ulcerative colitis.4–6CARD15 represents the first major Crohn’s disease susceptibility gene identified, and its identification might facilitate the uncovering of other genetic factors for the disease.
| Item Type: | Article |
|---|---|
| ISSNs: | 0022-2593 (print) |
| Related URLs: | |
| Keywords: | linkage disequilibrium, peptides, cohort studies, disease, genetic, non-U.S.gov't, stromelysin 1, proteins, Great Britain, human, humans, research support, letter, crohn disease, germany,alleles, polymorphism, genotype, genetics, protein, intracellular signaling peptides and proteins, genetic predisposition to disease, crohn's disease |
| Subjects: | R Medicine Q Science > QH Natural history > QH426 Genetics Q Science > QM Human anatomy |
| Divisions: | University Structure - Pre August 2011 > School of Medicine > Infection, Inflammation and Repair |
| Item ID: | 60124 |
| Date Deposited: | 04 Sep 2008 |
| Last Modified: | 01 Jun 2011 02:44 |
| Contributors: | Pender, S.L.F. (Author) Croucher, P.J. (Author) Mascheretti, S. (Author) Prothero, J.D. (Author) Fisher, S.A. (Author) MacDonald, T.T. (Author) Schreiber, S. (Author) Ye, S. (Author) |
| Date: | 2004 |
| Status: | Published |
| URI: | http://eprints.soton.ac.uk/id/eprint/60124 |
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