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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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
Digital Object Identifier (DOI): doi:10.1136/jmg.2004.023572
ISSNs: 0022-2593 (print)
Related URLs:
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
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
ePrint ID: 60124
Accepted Date and Publication Date:
Date Deposited: 04 Sep 2008
Last Modified: 31 Mar 2016 12:42

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