A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease

Yasunori Ogura, Denise K. Bonen, Naohiro Inohara, Dan L. Nicolae, Felicia F. Chen, Richard Ramos, Heidi Britton, Thomas Moran, Reda Karaliuskas, Richard H. Duerr, Jean-Paul Achkar, Steven R. Brant, Theodore M. Bayless, Barbara S. Kirschner, Stephen B. Hanauer, Gabriel Nuñez () and Judy H. Cho
Additional contact information
Yasunori Ogura: The University of Michigan Medical School
Denise K. Bonen: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals
Naohiro Inohara: The University of Michigan Medical School
Dan L. Nicolae: and
Felicia F. Chen: The University of Michigan Medical School
Richard Ramos: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals
Heidi Britton: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals
Thomas Moran: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals
Reda Karaliuskas: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals
Richard H. Duerr: University of Pittsburgh
Jean-Paul Achkar: The Cleveland Clinic Foundation
Steven R. Brant: The Harvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center, The Johns Hopkins University School of Medicine
Theodore M. Bayless: The Harvey M. and Lyn P. Meyerhoff Inflammatory Bowel Disease Center, The Johns Hopkins University School of Medicine
Barbara S. Kirschner: University of Chicago
Stephen B. Hanauer: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals
Gabriel Nuñez: The University of Michigan Medical School
Judy H. Cho: The Martin Boyer Laboratories, Gastroenterology Section, The University of Chicago Hospitals

Nature, 2001, vol. 411, issue 6837, 603-606

Abstract: Abstract Crohn's disease is a chronic inflammatory disorder of the gastrointestinal tract, which is thought to result from the effect of environmental factors in a genetically predisposed host. A gene location in the pericentromeric region of chromosome 16, IBD1, that contributes to susceptibility to Crohn's disease has been established through multiple linkage studies1,2,3,4,5,6, but the specific gene(s) has not been identified. NOD2, a gene that encodes a protein with homology to plant disease resistance gene products is located in the peak region of linkage on chromosome 16 (ref. 7). Here we show, by using the transmission disequilibium test and case-control analysis, that a frameshift mutation caused by a cytosine insertion, 3020insC, which is expected to encode a truncated NOD2 protein, is associated with Crohn's disease. Wild-type NOD2 activates nuclear factor NF-κB, making it responsive to bacterial lipopolysaccharides; however, this induction was deficient in mutant NOD2. These results implicate NOD2 in susceptibility to Crohn's disease, and suggest a link between an innate immune response to bacterial components and development of disease.

Date: 2001
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DOI: 10.1038/35079114

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