A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease
dc.contributor.author | Ogura, Y. | en_US |
dc.contributor.author | Bonen, D. K. | en_US |
dc.contributor.author | Inohara, Naohiro | en_US |
dc.contributor.author | Nicolae, D. L. | en_US |
dc.contributor.author | Chen, Felicia F. | en_US |
dc.contributor.author | Ramos, Richard | 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, Stephen B. | en_US |
dc.contributor.author | Nunez, Gabriel | en_US |
dc.contributor.author | Cho, Judy 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 | https://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 | |
dc.format.mimetype | application/octet-stream | |
dc.format.mimetype | text/plain | |
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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