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

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630 Citations (Scopus)


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 languageEnglish
Pages (from-to)867-874
Number of pages8
Issue number4
Publication statusPublished - Apr 2002


  • 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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