| Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. | |
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MedLine Citation:
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PMID: 11425413 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Background Genetic predisposition to inflammatory bowel disease (IBD) has been shown by epidemiological and linkage studies. Genetic linkage of IBD to chromosome 16 has been previously observed and replicated in independent populations. The recently identified NOD2 gene is a good positional and functional candidate gene since it is located in the region of linkage on chromosome 16q12, and activates nuclear factor (NF) kappaB in response to bacterial lipopolysaccharides. Methods We sequenced the coding region of the NOD2 gene and genotyped an insertion polymorphism affecting the leucine-rich region of the protein product in 512 individuals with IBD from 309 German or British families, 369 German trios (ie, German patients with sporadic IBD and their unaffected parents), and 272 normal controls. We then tested for association with Crohn's disease and ulcerative colitis. Findings Family-based association analyses were consistently positive in 95 British and 99 German affected sibling pairs with Crohn's disease (combined p<0.0001); the association was confirmed in the 304 German trios with Crohn's disease. No association was seen in the 115 sibling pairs and 65 trios with ulcerative colitis. The genotype-specific disease risks conferred by heterozygous and homozygous mutant genotypes were 2.6 (95% CI 1.5-4.5) and 42.1 (4.3-infinity), respectively. Interpretation The insertion mutation in the NOD2 gene confers a substantially increased susceptibility to Crohn's disease but not to ulcerative colitis. |
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Authors:
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J Hampe; A Cuthbert; P J Croucher; M M Mirza; S Mascheretti; S Fisher; H Frenzel; K King; A Hasselmeyer; A J MacPherson; S Bridger; S van Deventer; A Forbes; S Nikolaus; J E Lennard-Jones; U R Foelsch; M Krawczak; C Lewis; S Schreiber; C G Mathew |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Lancet Volume: 357 ISSN: 0140-6736 ISO Abbreviation: Lancet Publication Date: 2001 Jun |
Date Detail:
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Created Date: 2001-06-26 Completed Date: 2001-07-12 Revised Date: 2009-11-03 |
Medline Journal Info:
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Nlm Unique ID: 2985213R Medline TA: Lancet Country: England |
Other Details:
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Languages: eng Pagination: 1925-8 Citation Subset: AIM; IM |
Affiliation:
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Department of General Internal Medicine, Christian-Albrechts-University, Kiel, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Carrier Proteins* Chromosomes, Human, Pair 16* Colitis, Ulcerative / genetics Crohn Disease / genetics* England Frameshift Mutation / genetics Gene Frequency / genetics Genetic Predisposition to Disease / genetics Genotype Germany Humans Intracellular Signaling Peptides and Proteins* Mutagenesis, Insertional / genetics* NF-kappa B / genetics Nod2 Signaling Adaptor Protein Phenotype Proteins / genetics* |
| Chemical | |
Reg. No./Substance:
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0/Carrier Proteins; 0/Intracellular Signaling Peptides and Proteins; 0/NF-kappa B; 0/NOD2 protein, human; 0/Nod2 Signaling Adaptor Protein; 0/Proteins |
| Comments/Corrections | |
Comment In:
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Lancet. 2001 Jun 16;357(9272):1902-4
[PMID:
11425408
]
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Erratum In:
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Lancet 2002 Sep 7;360(9335):806 |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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