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

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dc.contributor.author Ogura, Y. en_US
dc.contributor.author Bonen, D. K. en_US
dc.contributor.author Inohara, N. en_US
dc.contributor.author Nicolae, D. L. en_US
dc.contributor.author Chen, F. F. en_US
dc.contributor.author Ramos, R. en_US
dc.contributor.author Britton, H. en_US
dc.contributor.author Moran, T. en_US
dc.contributor.author Karaliuskas, R. en_US
dc.contributor.author Duerr, R. H. en_US
dc.contributor.author Achkar, J. P. en_US
dc.contributor.author Brant, S. R. en_US
dc.contributor.author Bayless, T. M. en_US
dc.contributor.author Kirschner, B. S. en_US
dc.contributor.author Hanauer, S. B. en_US
dc.contributor.author Nunez, G. en_US
dc.contributor.author Cho, J. H. en_US
dc.date.accessioned 2009-06-01T17:41:13Z
dc.date.available 2009-06-01T17:41:13Z
dc.date.issued 2001-05-31 en_US
dc.identifier.citation Ogura, Y; Bonen, DK; Inohara, N; Nicolae, DL; Chen, FF; Ramos, R; Britton, H; Moran, T; Karaliuskas, R; Duerr, RH; Achkar, JP; Brant, SR; Bayless, TM; Kirschner, BS; Hanauer, SB; Nunez, G; Cho, JH. (2001) "A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease." Nature 411(6837): 603-606. <http://hdl.handle.net/2027.42/62856> en_US
dc.identifier.issn 0028-0836 en_US
dc.identifier.uri http://hdl.handle.net/2027.42/62856
dc.identifier.uri http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=11385577&dopt=citation en_US
dc.description.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 studies(1-6), 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-kappaB, 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. en_US
dc.format.extent 334674 bytes
dc.format.extent 2489 bytes
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dc.publisher Macmillan Publishers Ltd. en_US
dc.source Nature en_US
dc.title A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease en_US
dc.type Article en_US
dc.subject.hlbtoplevel Science en_US
dc.description.peerreviewed Peer Reviewed en_US
dc.contributor.affiliationum Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA en_US
dc.contributor.affiliationum Univ Michigan, Sch Med, Ctr Comprehens Canc, Ann Arbor, MI 48109 USA en_US
dc.contributor.affiliationother Univ Chicago Hosp, Dept Med, Gastroenterol Sect, Martin Boyer Labs, Chicago, IL 60637 USA en_US
dc.contributor.affiliationother Univ Chicago, Dept Pediat, Chicago, IL 60637 USA en_US
dc.contributor.affiliationother Univ Chicago, Dept Stat, Chicago, IL 60637 USA en_US
dc.contributor.affiliationother Univ Pittsburgh, Dept Med, Pittsburgh, PA 15260 USA en_US
dc.contributor.affiliationother Univ Pittsburgh, Ctr Genom Sci, Pittsburgh, PA 15260 USA en_US
dc.contributor.affiliationother Cleveland Clin Fdn, Dept Gastroenterol, Cleveland, OH 44195 USA en_US
dc.contributor.affiliationother Johns Hopkins Univ, Sch Med, Dept Med, Harvey M & Lyn P Meyerhoff Inflammatory Bowel Dis, Baltimore, MD 21205 USA en_US
dc.identifier.pmid 11385577 en_US
dc.description.bitstreamurl http://deepblue.lib.umich.edu/bitstream/2027.42/62856/1/411603a0.pdf
dc.identifier.doi http://dx.doi.org/10.1038/35079114 en_US
dc.identifier.source Nature en_US
dc.owningcollname Interdisciplinary and Peer-Reviewed
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