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Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease

Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease
Transmission disequilibrium test of stromelysin-1 gene variation in relation to Crohn's disease
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.
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
0022-2593
e112
Pender, S.L.F.
62528b03-ec42-41bb-80fe-48454c2c5242
Croucher, P.J.
17bf785c-beab-4f4c-90b7-ab50ed770717
Mascheretti, S.
cc928b1b-684d-4237-bd22-c803b1f486f0
Prothero, J.D.
87babf58-ecdb-4cd0-8e72-a28e7e5ecde0
Fisher, S.A.
7c5516b9-dabd-4ac4-bcb9-1cf6a577ab44
MacDonald, T.T.
171334aa-638a-42b0-99f6-e860e2f0ca45
Schreiber, S.
fe66208f-fd30-4f46-9acc-b7c6268df75b
Ye, S.
73027825-861c-4bca-8ce6-67a325fa2d2c
Pender, S.L.F.
62528b03-ec42-41bb-80fe-48454c2c5242
Croucher, P.J.
17bf785c-beab-4f4c-90b7-ab50ed770717
Mascheretti, S.
cc928b1b-684d-4237-bd22-c803b1f486f0
Prothero, J.D.
87babf58-ecdb-4cd0-8e72-a28e7e5ecde0
Fisher, S.A.
7c5516b9-dabd-4ac4-bcb9-1cf6a577ab44
MacDonald, T.T.
171334aa-638a-42b0-99f6-e860e2f0ca45
Schreiber, S.
fe66208f-fd30-4f46-9acc-b7c6268df75b
Ye, S.
73027825-861c-4bca-8ce6-67a325fa2d2c

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

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.

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More information

Published date: 2004
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

Identifiers

Local EPrints ID: 60124
URI: http://eprints.soton.ac.uk/id/eprint/60124
ISSN: 0022-2593
PURE UUID: 634325e7-4910-4a1e-9cf3-fe3ba30362b2
ORCID for S.L.F. Pender: ORCID iD orcid.org/0000-0001-6332-0333

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Date deposited: 04 Sep 2008
Last modified: 16 Mar 2024 03:19

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Contributors

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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