Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations

Hampe, Jochen, Cuthbert, Andrew, Croucher, Peter J. P., Mirza, Muddassar M., Mascheretti, Silvia, Fisher, Sheila, Frenzel, Henning, King, Kathy, Hasselmeyer, Anja, MacPherson, Andrew J. S., Bridger, Stephen, van Deventer, Sander, Forbes, Alastair ORCID:, Nikolaus, Susanna, Lennard-Jones, John E., Foelsch, Ulrich R., Krawczak, Michael, Lewis, Cathryn, Schreiber, Stefan and Mathew, Christopher G. (2001) Association between insertion mutation in NOD2 gene and Crohn's disease in German and British populations. The Lancet, 357 (9272). pp. 1925-1928. ISSN 0140-6736

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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

Item Type: Article
Uncontrolled Keywords: alleles,carrier proteins,chromosomes, human, pair 16,colitis, ulcerative,crohn disease,england,frameshift mutation,gene frequency,genetic predisposition to disease,genotype,germany,humans,intracellular signaling peptides and proteins,mutagenesis, insertional,nf-kappa b,nod2 signaling adaptor protein,phenotype,proteins,sdg 3 - good health and well-being ,/dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
UEA Research Groups: Faculty of Medicine and Health Sciences > Research Groups > Nutrition and Preventive Medicine
Faculty of Medicine and Health Sciences > Research Groups > Gastroenterology and Gut Biology
Depositing User: Pure Connector
Date Deposited: 06 Aug 2014 10:46
Last Modified: 24 Oct 2022 06:35
DOI: 10.1016/S0140-6736(00)05063-7

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