Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease

@article{Hugot2001AssociationON,
  title={Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease},
  author={Jean-Pierre Hugot and Mathias Chamaillard and H. Zouali and Suzanne Lesage and Jean Pierre C{\'e}zard and Jacques Belaiche and Sven Almer and Curt Tysk and C O'Morain and Miquel Angel Gassull and Vibeke Binder and Yigael Finkel and Antoine Cortot and Robert Modigliani and Pierre Laurent-Puig and Corine Gower-Rousseau and Jeanne Macry and J F Colombel and Mourad Sahbatou and G. Thomas},
  journal={Nature},
  year={2001},
  volume={411},
  pages={599-603}
}
Crohn's disease and ulcerative colitis, the two main types of chronic inflammatory bowel disease, are multifactorial conditions of unknown aetiology. A susceptibility locus for Crohn's disease has been mapped to chromosome 16. Here we have used a positional-cloning strategy, based on linkage analysis followed by linkage disequilibrium mapping, to identify three independent associations for Crohn's disease: a frameshift variant and two missense variants of NOD2, encoding a member of the Apaf-1… Expand

Paper Mentions

Observational Clinical Trial
The purpose of this study is to look for the NOD2 gene in children with Inflammatory Bowel Disease (IBD) and their parents. We hope to understand this NOD2 gene better by determining… Expand
ConditionsCrohn's Disease, Inflammatory Bowel Disease, Ulcerative Colitis
Interventional Clinical Trial
The objective of this study is to evaluate the safety and effectiveness of the experimental drug AST-120 in treating patients with mild to moderately severe Crohn's disease who have… Expand
ConditionsInflammatory Bowel Disease, Intestinal Fistula
InterventionDrug
NOD 2 ( CARD 15 ) , the first susceptibility gene for Crohn ’ s disease
Crohn’s disease and ulcerative colitis, the two main types of chronic inflammatory bowel disease, are multifactorial conditions of unknown aetiology. A susceptibility locus for Crohn’s disease hasExpand
The Nod2 Gene in Crohn's Disease: Implications for Future Research Into the Genetics and Immunology of Crohn's Disease
  • J. Cho
  • Biology, Medicine
  • Inflammatory bowel diseases
  • 2001
TLDR
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Editorial: The CARD15 gene mutation in Crohn disease
  • M. Vatn
  • Medicine
  • Scandinavian journal of gastroenterology
  • 2003
TLDR
The publication by Murillo and co-workers in the present issue gives a comprehensive overview of the present role of the CARD15 gene in the pathogenesis of CD, its role in phenotypic classification of disease, prognosis and a model for the development of polygenic diseases. Expand
Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations
TLDR
The insertion mutation in the NOD2 gene confers a substantially increased susceptibility to Crohn's disease but not to ulcerative colitis. Expand
Genetic variation and activity of mouse Nod2, a susceptibility gene for Crohn's disease.
TLDR
These studies demonstrate a conserved role for Nod2 in the response to bacterial components and suggest that selective evolutionary pressure exerted by pathogens may have contributed to the high level of variability of Nod 2 sequences in both humans and mice. Expand
Update on genetics of inflammatory bowel disease.
TLDR
Crohn disease-associated mutations in CARD15/NOD2 predominate in its C-terminus leucine-rich repeat domain, which is required for bacterial lipopolysaccharide-dependent induction of NF-kappaB activity. Expand
Screening of tumor necrosis factor receptor-associated factor 6 as a candidate gene for inflammatory bowel disease
TLDR
This study tends to exclude a good positional and functional candidate gene, TRAF6, as an IBD predisposing gene and lends support to the idea that the function of TRAF 6 is important enough not to permit structural alterations of this mediator. Expand
Non-association of Crohn's disease with NOD2 gene variants in Moroccan patients.
TLDR
This preliminary study shows no evidence association of NOD2 gene with Crohn's disease in the Moroccan population, with no significant difference compared to controls. Expand
Crohn's disease associated CARD15 (NOD2) variants are not involved in the susceptibility to type 1 diabetes.
TLDR
The results do not support a role for CD-associated CARD15 variants in the susceptibility to T1D, and suggest that another gene is responsible for the shared susceptibility between autoimmune and inflammatory diseases mapping to this region. Expand
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