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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).

Record type: Article


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.

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Published date: 2004
Keywords: linkage disequilibrium, peptides, cohort studies, disease, genetic,'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


Local EPrints ID: 60124
ISSN: 0022-2593
PURE UUID: 634325e7-4910-4a1e-9cf3-fe3ba30362b2
ORCID for S.L.F. Pender: ORCID iD

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Date deposited: 04 Sep 2008
Last modified: 17 Jul 2017 14:23

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Author: S.L.F. Pender ORCID iD
Author: P.J. Croucher
Author: S. Mascheretti
Author: J.D. Prothero
Author: S.A. Fisher
Author: T.T. MacDonald
Author: S. Schreiber
Author: S. Ye

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