The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease

Andrew P. Cuthbert; Sheila A. Fisher; Muddassar M. Mirza; Kathy King; Jochen Hampe; Peter J. P. Croucher; Silvia Mascheretti; Jeremy Sanderson; Alastair Forbes; John Mansfield; Stefan Schreiber; Cathryn M. Lewis; Christopher G. Mathew

doi:10.1053/gast.2002.32415

The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease

Andrew P. Cuthbert
, Sheila A. Fisher
, Muddassar M. Mirza
, Kathy King
, Jochen Hampe
, Peter J. P. Croucher
, Silvia Mascheretti
, Jeremy Sanderson
, Alastair Forbes
, John Mansfield
, Stefan Schreiber
, Cathryn M. Lewis
, Christopher G. Mathew

Research output: Contribution to journal › Article › peer-review

655 Citations (Scopus)

Abstract

Mutations in the NOD2 gene are strongly associated with susceptibility to Crohn's disease (CD). We analyzed a large cohort of European patients with inflammatory bowel disease to determine which mutations confer susceptibility, the degree of risk conferred, their prevalence in familial and sporadic forms of the disease, and whether they are associated with site of disease.

Original language	English
Pages (from-to)	867-874
Number of pages	8
Journal	Gastroenterology
Volume	122
Issue number	4
DOIs	https://doi.org/10.1053/gast.2002.32415
Publication status	Published - Apr 2002

Keywords

Carrier Proteins
Cohort Studies
Colon
Crohn Disease
Family Health
Female
Frameshift Mutation
Genetic Linkage
Genetic Predisposition to Disease
Humans
Ileum
Intracellular Signaling Peptides and Proteins
Male
Mutation, Missense
Nod2 Signaling Adaptor Protein
Phenotype
Polymorphism, Single Nucleotide
Proteins
Risk Factors

Access to Document

10.1053/gast.2002.32415

Cite this

Cuthbert, A. P., Fisher, S. A., Mirza, M. M., King, K., Hampe, J., Croucher, P. J. P., Mascheretti, S., Sanderson, J., Forbes, A., Mansfield, J., Schreiber, S., Lewis, C. M., & Mathew, C. G. (2002). The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology, 122(4), 867-874. https://doi.org/10.1053/gast.2002.32415

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title = "The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease",

abstract = "Mutations in the NOD2 gene are strongly associated with susceptibility to Crohn's disease (CD). We analyzed a large cohort of European patients with inflammatory bowel disease to determine which mutations confer susceptibility, the degree of risk conferred, their prevalence in familial and sporadic forms of the disease, and whether they are associated with site of disease.",

keywords = "Carrier Proteins, Cohort Studies, Colon, Crohn Disease, Family Health, Female, Frameshift Mutation, Genetic Linkage, Genetic Predisposition to Disease, Humans, Ileum, Intracellular Signaling Peptides and Proteins, Male, Mutation, Missense, Nod2 Signaling Adaptor Protein, Phenotype, Polymorphism, Single Nucleotide, Proteins, Risk Factors",

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year = "2002",

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doi = "10.1053/gast.2002.32415",

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T1 - The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease

AU - Cuthbert, Andrew P.

AU - Fisher, Sheila A.

AU - Mirza, Muddassar M.

AU - King, Kathy

AU - Hampe, Jochen

AU - Croucher, Peter J. P.

AU - Mascheretti, Silvia

AU - Sanderson, Jeremy

AU - Forbes, Alastair

AU - Mansfield, John

AU - Schreiber, Stefan

AU - Lewis, Cathryn M.

AU - Mathew, Christopher G.

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AB - Mutations in the NOD2 gene are strongly associated with susceptibility to Crohn's disease (CD). We analyzed a large cohort of European patients with inflammatory bowel disease to determine which mutations confer susceptibility, the degree of risk conferred, their prevalence in familial and sporadic forms of the disease, and whether they are associated with site of disease.

KW - Carrier Proteins

KW - Cohort Studies

KW - Colon

KW - Crohn Disease

KW - Family Health

KW - Female

KW - Frameshift Mutation

KW - Genetic Linkage

KW - Genetic Predisposition to Disease

KW - Humans

KW - Ileum

KW - Intracellular Signaling Peptides and Proteins

KW - Male

KW - Mutation, Missense

KW - Nod2 Signaling Adaptor Protein

KW - Phenotype

KW - Polymorphism, Single Nucleotide

KW - Proteins

KW - Risk Factors

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DO - 10.1053/gast.2002.32415

M3 - Article

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SN - 0016-5085

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EP - 874

JO - Gastroenterology

JF - Gastroenterology

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