The DOI matches its Crossref record; 28 of the 28 references it cites were found in a registry or an index.
Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease
Abstract
Crohn's disease and ulcerative colitis, the two main types of chronic inflammatory bowel disease, are multifactorial conditions of unknown aetiology. A susceptibility locus for Crohn's disease has been mapped to chromosome 16. Here we have used a positional-cloning strategy, based on linkage analysis followed by linkage disequilibrium mapping, to identify three independent associations for Crohn's disease: a frameshift variant and two missense variants of NOD2, encoding a member of the Apaf-1/Ced-4 superfamily of apoptosis regulators that is expressed in monocytes. These NOD2 variants alter the structure of either the leucine-rich repeat domain of the protein or the adjacent region. NOD2 activates nuclear factor NF-kB; this activating function is regulated by the carboxy-terminal leucine-rich repeat domain, which has an inhibitory role and also acts as an intracellular receptor for components of microbial pathogens. These observations suggest that the NOD2 gene product confers susceptibility to Crohn's disease by altering the recognition of these components and/or by over-activating NF-kB in monocytes, thus documenting a molecular model for the pathogenic mechanism of Crohn's disease that can now be further investigated.
Overview
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
In the citing paper
“Efforts to apply the approach–linkage analysis in multiplex pedigrees–that had been so successful for the high-penetrance variants responsible for Mendelian disease were, with notable exceptions34–36, largely unsuccessful for common, later-onset traits with more complex multifactorial aetiologies, such as asthma, diabetes and depression.”
From A brief history of human disease genetics (2020) · cites this paper as [34]
In the citing paper
“Among these, mutation in the NOD2 gene was the first to be confirmed to be strongly associated with susceptibility to CD.157,158”
From Interaction between microbiota and immunity in health and disease (2020) · cites this paper as [158]
Citations
Cites
Defective LPS Signaling in C3H/HeJ and C57BL/10ScCr Mice: Mutations in Tlr4 Gene
Poltorak, A., He, X., Smirnova, I., Liu, M.-Y., Huffel, C. V., Du, X., Birdwell, D., Alejos, E., Silva, M., Galanos, C., et al. (1998) · Science · doi:10.1126/science.282.5396.2085 · Cited by 7,631
Spielman, R. S., McGinnis, R. E., & Ewens, W. J. (1993) · PubMed · Cited by 3,679
Auphan, N., DiDonato, J. A., Rosette, C., Helmberg, A., & Karin, M. (1995) · Science · doi:10.1126/science.270.5234.286 · Cited by 2,390
Classification of Inflammatory Bowel Disease
Lennard‐Jones, J. E. (1989) · Scandinavian Journal of Gastroenterology · doi:10.3109/00365528909091339 · Cited by 2,022
Nod2, a Nod1/Apaf-1 Family Member That Is Restricted to Monocytes and Activates NF-κB
Ogura, Y., Inohara, N., Benito, A., Chen, F. F., Yamaoka, S., & Núñez, G. (2001) · Journal of Biological Chemistry · doi:10.1074/jbc.m008072200 · Cited by 1,357
Mapping of a susceptibility locus for Crohn's disease on chromosome 16
Hugot, J., Laurent‐Puig, P., Gower‐Rousseau, C., Olson, J. M., Lee, J. C., Beaugerie, L., Naom, I., Dupas, J., Gossum, A. V., Af, G. D. T. D., et al. (1996) · Nature · doi:10.1038/379821a0 · Cited by 950
Self-citationActivation of nuclear factor κB in inflammatory bowel disease
Schreiber, S., Nikolaus, S., & Hampe, J. (1998) · Gut · doi:10.1136/gut.42.4.477 · Cited by 752
Sulfasalazine: A potent and specific inhibitor of nuclear factor kappa B
Wahl, C., Liptay, S., Adler, G., & Schmid, R. M. (1998) · Journal of Clinical Investigation · doi:10.1172/jci992 · Cited by 742
Nod1, an Apaf-1-like Activator of Caspase-9 and Nuclear Factor-κB
Inohara, N., Koseki, T., del Peso, L., Hu, Y., Yee, C., Chen, S., Carrio, R., Merino, J., Liu, D., Ni, J., et al. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.21.14560 · Cited by 742
Satsangi, J., Parkes, M., Louis, E. J., Hashimoto, L., Kato, N., Welsh, K. I., Terwilliger, J. D., Lathrop, M. G., Bell, J. I., & Jewell, D. P. (1996) · Nature Genetics · doi:10.1038/ng1096-199 · Cited by 694
Research works printed but not linked: 1
- Monsen, U., Iselius, L. & Hellers, G. Evidence for a recessive gene in Crohn's disease. Acta Chir. Scand. 559 (suppl.), 7–42 (1990).
Cited by
Sorted by citations
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Janeway, C. A., & Medzhitov, R. (2002) · Annual Review of Immunology · doi:10.1146/annurev.immunol.20.083001.084359 · Cited by 8,394
The International HapMap Project
†The International HapMap Consortium, Genotyping centres: Baylor College of Medicine and ParAllele BioScience, Gibbs, R. A., Belmont, J. W., Hardenbol, P., Willis, T. D., Yu, F., Chinese HapMap Consortium, Yang, H., Ch'ang, L.-Y., et al. (2003) · Nature · doi:10.1038/nature02168 · Cited by 6,057
A haplotype map of the human genome
The International HapMap Consortium (2005) · Nature · doi:10.1038/nature04226 · Cited by 5,858
The Structure of Haplotype Blocks in the Human Genome
Gabriel, S. B., Schaffner, S. F., Nguyen, H., Moore, J. M., Roy, J., Blumenstiel, B., Higgins, J., DeFelice, M., Lochner, A., Faggart, M., et al. (2002) · Science · doi:10.1126/science.1069424 · Cited by 5,863
Schroder, K., & Tschopp, J. (2010) · Cell · doi:10.1016/j.cell.2010.01.040 · Cited by 5,475
Unravelling the pathogenesis of inflammatory bowel disease
Xavier, R. J., & Podolsky, D. K. (2007) · Nature · doi:10.1038/nature06005 · Cited by 4,364
Recognition of Commensal Microflora by Toll-Like Receptors Is Required for Intestinal Homeostasis
Rakoff-Nahoum, S., Paglino, J., Eslami-Varzaneh, F., Edberg, S., & Medzhitov, R. (2004) · Cell · doi:10.1016/j.cell.2004.07.002 · Cited by 4,251
Interactions Between the Microbiota and the Immune System
Hooper, L. V., Littman, D. R., & Macpherson, A. J. (2012) · Science · doi:10.1126/science.1223490 · Cited by 4,173
Proteobacteria: Microbial signature of dysbiosis in gut microbiota
Shin, N.-R., Whon, T. W., & Bae, J.-W. (2015) · Trends in Biotechnology · doi:10.1016/j.tibtech.2015.06.011 · Cited by 3,954
Interaction between microbiota and immunity in health and disease
Zheng, D., Liwinski, T., & Elinav, E. (2020) · Cell Research · doi:10.1038/s41422-020-0332-7 · Cited by 3,947
The human microbiome: at the interface of health and disease
Cho, I., & Blaser, M. J. (2012) · Nature Reviews Genetics · doi:10.1038/nrg3182 · Cited by 3,449
Multi-omics of the gut microbial ecosystem in inflammatory bowel diseases
Lloyd-Price, J., Arze, C., Ananthakrishnan, A. N., Schirmer, M., Avila-Pacheco, J., Poon, T. W., Andrews, E., Ajami, N. J., Bonham, K. S., Brislawn, C. J., et al. (2019) · Nature · doi:10.1038/s41586-019-1237-9 · Cited by 3,143
Toll-like receptors in innate immunity
Takeda, K. (2004) · International Immunology · doi:10.1093/intimm/dxh186 · Cited by 3,328
A Genome-Wide Association Study Identifies IL23R as an Inflammatory Bowel Disease Gene
Duerr, R. H., Taylor, K. D., Brant, S. R., Rioux, J. D., Silverberg, M. S., Daly, M. J., Steinhart, A. H., Abraham, C., Regueiro, M., Griffiths, A., et al. (2006) · Science · doi:10.1126/science.1135245 · Cited by 3,039
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels
Saxena, R., Voight, B. F., Lyssenko, V., Burtt, N. P., de Bakker, P. I. W., Chen, H., Roix, J. J., Kathiresan, S., Hirschhorn, J. N., Daly, M. J., et al. (2007) · Science · doi:10.1126/science.1142358 · Cited by 2,843
Points of control in inflammation
Nathan, C. (2002) · Nature · doi:10.1038/nature01320 · Cited by 2,738
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease
the NIDDK IBD Genetics Consortium, Barrett, J. C., the Belgian-French IBD Consortium, the Wellcome Trust Case Control Consortium, Hansoul, S., Nicolae, D. L., Cho, J. H., Duerr, R. H., Rioux, J. D., Brant, S. R., et al. (2008) · Nature Genetics · doi:10.1038/ng.175 · Cited by 2,593
Self-citationReduced diversity of faecal microbiota in Crohn’s disease revealed by a metagenomic approach
Manichanh, C., Rigottier-Gois, L., Bonnaud, E., Gloux, K., Pelletier, E., Frangeul, L., Nalin, R., Jarrin, C., Chardon, P., Marteau, P., et al. (2006) · Gut · doi:10.1136/gut.2005.073817 · Cited by 2,277
Role of the gut microbiota in immunity and inflammatory disease
Kamada, N., Seo, S.-U., Chen, G. Y., & Núñez, G. (2013) · Nature reviews. Immunology · doi:10.1038/nri3430 · Cited by 2,256
Inflammatory bowel disease: cause and immunobiology
Baumgart, D. C., & Carding, S. R. (2007) · The Lancet · doi:10.1016/s0140-6736(07)60750-8 · Cited by 2,147
Azziz, R., Carmina, E., Dewailly, D., Diamanti-Kandarakis, E., Escobar-Morreale, H. F., Futterweit, W., Janssen, O. E., Legro, R. S., Norman, R. J., Taylor, A. E., et al. (2009) · Fertility and Sterility · doi:10.1016/j.fertnstert.2008.06.035 · Cited by 2,132
The microbiome and innate immunity
Thaiss, C. A., Zmora, N., Levy, M., & Elinav, E. (2016) · Nature · doi:10.1038/nature18847 · Cited by 2,012
A cytokine-mediated link between innate immunity, inflammation, and cancer
Lin, W.-W., & Karin, M. (2007) · Journal of Clinical Investigation · doi:10.1172/jci31537 · Cited by 1,940
Microbial Influences in Inflammatory Bowel Diseases
Sartor, R. B. (2008) · Gastroenterology · doi:10.1053/j.gastro.2007.11.059 · Cited by 1,927
Kaser, A., Zeissig, S., & Blumberg, R. S. (2010) · Annual Review of Immunology · doi:10.1146/annurev-immunol-030409-101225 · Cited by 1,806
Intestinal barrier function: molecular regulation and disease pathogenesis
Groschwitz, K. R., & Hogan, S. P. (2009) · Journal of Allergy and Clinical Immunology · doi:10.1016/j.jaci.2009.05.038 · Cited by 1,775
Rioux, J. D., Xavier, R. J., Taylor, K. D., Silverberg, M. S., Goyette, P., Huett, A., Green, T., Kuballa, P., Barmada, M. M., Datta, L. W., et al. (2007) · Nature Genetics · doi:10.1038/ng2032 · Cited by 1,769
Epidemiology and risk factors for IBD
Ananthakrishnan, A. N. (2015) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2015.34 · Cited by 1,741
Gut microbiota: Role in pathogen colonization, immune responses, and inflammatory disease
Pickard, J. M., Zeng, M. Y., Caruso, R., & Núñez, G. (2017) · Immunological Reviews · doi:10.1111/imr.12567 · Cited by 1,699
Reciprocal interactions of the intestinal microbiota and immune system
Maynard, C. L., Elson, C. O., Hatton, R. D., & Weaver, C. T. (2012) · Nature · doi:10.1038/nature11551 · Cited by 1,598
Darfeuille-Michaud, A., Boudeau, J., Bulois, P., Neut, C., Glasser, A.-L., Barnich, N., Bringer, M.-A., Swidsinski, A., Beaugerie, L., & Colombel, J.-F. (2004) · Gastroenterology · doi:10.1053/j.gastro.2004.04.061 · Cited by 1,566
Self-citationNegative regulation of Toll-like receptor-mediated immune responses
Liew, F. Y., Xu, D., Brint, E. K., & O'Neill, L. A. J. (2005) · Nature Reviews Immunology · doi:10.1038/nri1630 · Cited by 1,509
Png, C. W., Lindén, S. K., Gilshenan, K. S., Zoetendal, E. G., McSweeney, C. S., Sly, L. I., McGuckin, M. A., & Florin, T. H. J. (2010) · American Journal of Gastroenterology · doi:10.1038/ajg.2010.281 · Cited by 1,364
Replicating genotype–phenotype associations
NCI-NHGRI Working Group on Replication in Association Studies, Chanock, S. J., Manolio, T., Boehnke, M., Boerwinkle, E., Hunter, D. J., Thomas, G., Hirschhorn, J. N., Abecasis, G., Altshuler, D., et al. (2007) · Nature · doi:10.1038/447655a · Cited by 1,352
Self-citationOtt, S. J., Musfeldt, M., Wenderoth, D. F., Hampe, J., Brant, O., Fölsch, U. R., Timmis, K. N., & Schreiber, S. (2004) · Gut · doi:10.1136/gut.2003.025403 · Cited by 1,311
Travassos, L. H., Carneiro, L. A. M., Ramjeet, M., Hussey, S., Kim, Y.-G., Magalhães, J. G., Yuan, L., Soares, F., Chea, E., Le Bourhis, L., et al. (2010) · Nature Immunology · doi:10.1038/ni.1823 · Cited by 1,306
Low counts of Faecalibacterium prausnitzii in colitis microbiota
Sokol, H., Seksik, P., Furet, J. P., Firmesse, O., Nion-Larmurier, I., Beaugerie, L., Cosnes, J., Corthier, G., Marteau, P., & Doré, J. (2009) · Inflammatory Bowel Diseases · doi:10.1002/ibd.20903 · Cited by 1,275
Understanding and Preventing the Global Increase of Inflammatory Bowel Disease
Kaplan, G. G., & Ng, S. C. (2017) · Gastroenterology · doi:10.1053/j.gastro.2016.10.020 · Cited by 1,224
Mendelian randomization: prospects, potentials, and limitations
Smith, G. D. (2004) · International Journal of Epidemiology · doi:10.1093/ije/dyh132 · Cited by 1,222
Paneth cells, antimicrobial peptides and maintenance of intestinal homeostasis
Bevins, C. L., & Salzman, N. H. (2011) · Nature Reviews Microbiology · doi:10.1038/nrmicro2546 · Cited by 1,238
Haplotype tagging for the identification of common disease genes
Johnson, G. C. L., Esposito, L., Barratt, B. J., Smith, A. N., Heward, J., Di Genova, G., Ueda, H., Cordell, H. J., Eaves, I. A., Dudbridge, F., et al. (2001) · Nature Genetics · doi:10.1038/ng1001-233 · Cited by 1,174
Epithelial-cell recognition of commensal bacteria and maintenance of immune homeostasis in the gut
Artis, D. (2008) · Nature reviews. Immunology · doi:10.1038/nri2316 · Cited by 1,136
Current Understanding of Dysbiosis in Disease in Human and Animal Models
DeGruttola, A. K., Low, D., Mizoguchi, A., & Mizoguchi, E. (2016) · Inflammatory Bowel Diseases · doi:10.1097/mib.0000000000000750 · Cited by 1,122
Candidate-gene approaches for studying complex genetic traits: practical considerations
Tabor, H. K., Risch, N. J., & Myers, R. M. (2002) · Nature Reviews Genetics · doi:10.1038/nrg796 · Cited by 1,076
Dysbiosis of the faecal microbiota in patients with Crohn’s disease and their unaffected relatives
Joossens, M., Huys, G., Cnockaert, M., De Preter, V., Verbeke, K., Rutgeerts, P., Vandamme, P., & Vermeire, S. (2011) · Gut · doi:10.1136/gut.2010.223263 · Cited by 1,063
Tansey, M. G., & Goldberg, M. S. (2010) · Neurobiology of Disease · doi:10.1016/j.nbd.2009.11.004 · Cited by 1,045
Galectin 8 targets damaged vesicles for autophagy to defend cells against bacterial invasion
Thurston, T. L. M., Wandel, M. P., von Muhlinen, N., Foeglein, Á., & Randow, F. (2012) · Nature · doi:10.1038/nature10744 · Cited by 1,034
Zaki, M. H., Boyd, K. L., Vogel, P., Kastan, M. B., Lamkanfi, M., & Kanneganti, T.-D. (2010) · Immunity · doi:10.1016/j.immuni.2010.03.003 · Cited by 989
Li, Y., Willer, C., Sanna, S., & Abecasis, G. (2009) · Annual Review of Genomics and Human Genetics · doi:10.1146/annurev.genom.9.081307.164242 · Cited by 990
The genetics and immunopathogenesis of inflammatory bowel disease
Cho, J. H. (2008) · Nature Reviews Immunology · doi:10.1038/nri2340 · Cited by 940
Interleukin-17 and its target genes: mechanisms of interleukin-17 function in disease
Onishi, R. M., & Gaffen, S. L. (2010) · Immunology · doi:10.1111/j.1365-2567.2009.03240.x · Cited by 894
NOD1 and NOD2: Signaling, Host Defense, and Inflammatory Disease
Caruso, R., Warner, N., Inohara, N., & Núñez, G. (2014) · Immunity · doi:10.1016/j.immuni.2014.12.010 · Cited by 830
Finding genes that underlie complex traits.
Glazier, A. M., Nadeau, J. H., & Aitman, T. J. (2002) · Science · doi:10.1126/science.1076641 · Cited by 855
Mapping complex disease traits with global gene expression
Cookson, W., Liang, L., Abecasis, G., Moffatt, M., & Lathrop, M. (2009) · Nature Reviews Genetics · doi:10.1038/nrg2537 · Cited by 849
Tiede, I., Fritz, G., Strand, S., Poppe, D., Dvorsky, R., Strand, D., Lehr, H. A., Wirtz, S., Becker, C., Atreya, R., et al. (2003) · Journal of Clinical Investigation · doi:10.1172/jci16432 · Cited by 828
Interleukin-23 drives innate and T cell–mediated intestinal inflammation
Hue, S., Ahern, P., Buonocore, S., Kullberg, M. C., Cua, D. J., McKenzie, B. S., Powrie, F., & Maloy, K. J. (2006) · The Journal of Experimental Medicine · doi:10.1084/jem.20061099 · Cited by 823
IBD—what role do Proteobacteria play?
Mukhopadhya, I., Hansen, R., El-Omar, E. M., & Hold, G. L. (2012) · Nature Reviews Gastroenterology & Hepatology · doi:10.1038/nrgastro.2012.14 · Cited by 810
National Institute of Diabetes and Digestive Kidney Diseases Inflammatory Bowel Disease Genetics Consortium (NIDDK IBDGC), Rivas, M. A., United Kingdom Inflammatory Bowel Disease Genetics Consortium, International Inflammatory Bowel Disease Genetics Consortium, Beaudoin, M., Gardet, A., Stevens, C., Sharma, Y., Zhang, C. K., Boucher, G., et al. (2011) · Nature Genetics · doi:10.1038/ng.952 · Cited by 771
Transforming growth factor-β in T-cell biology
Gorelik, L., & Flavell, R. A. (2002) · Nature Reviews Immunology · doi:10.1038/nri704 · Cited by 792
The microbiome in infectious disease and inflammation
Honda, K., & Littman, D. R. (2012) · Annual Review of Immunology · doi:10.1146/annurev-immunol-020711-074937 · Cited by 791
Khan, I., Ullah, N., Zha, L., Bai, Y., Khan, A., Zhao, T., Che, T., & Zhang, C. (2019) · Pathogens · doi:10.3390/pathogens8030126 · Cited by 771
The allelic architecture of human disease genes: common disease-common variant... or not?
Pritchard, J. K. (2002) · Human Molecular Genetics · doi:10.1093/hmg/11.20.2417 · Cited by 711
Michielan, A., & D’Incà, R. (2015) · Mediators of Inflammation · doi:10.1155/2015/628157 · Cited by 709
Martini, E., Krug, S. M., Siegmund, B., Neurath, M. F., & Becker, C. (2017) · Cellular and Molecular Gastroenterology and Hepatology · doi:10.1016/j.jcmgh.2017.03.007 · Cited by 668
Bacterial flagellin is a dominant antigen in Crohn disease
Lodes, M. J., Cong, Y., Elson, C. O., Mohamath, R., Landers, C. J., Targan, S. R., Fort, M., & Hershberg, R. M. (2004) · Journal of Clinical Investigation · doi:10.1172/jci200420295 · Cited by 802
A brief history of human disease genetics
Claussnitzer, M., Cho, J. H., Collins, R., Cox, N. J., Dermitzakis, E. T., Hurles, M. E., Kathiresan, S., Kenny, E. E., Lindgren, C. M., MacArthur, D. G., et al. (2020) · Nature · doi:10.1038/s41586-019-1879-7 · Cited by 697
Bacterial translocation (BT) in cirrhosis†
Wiest, R., & Garcia‐Tsao, G. (2005) · Hepatology · doi:10.1002/hep.20632 · Cited by 677
NOD proteins: regulators of inflammation in health and disease
Philpott, D. J., Sorbara, M. T., Robertson, S. J., Croitoru, K., & Girardin, S. E. (2014) · Nature Reviews Immunology · doi:10.1038/nri3565 · Cited by 668
Innate immune recognition of the microbiota promotes host-microbial symbiosis
Chu, H., & Mazmanian, S. K. (2013) · Nature Immunology · doi:10.1038/ni.2635 · Cited by 630
Electrolyte transport in the mammalian colon: mechanisms and implications for disease
Kunzelmann, K., & Mall, M. (2002) · Physiological Reviews · doi:10.1152/physrev.00026.2001 · Cited by 655
Gene-microbiota interactions contribute to the pathogenesis of inflammatory bowel disease
Chu, H., Khosravi, A., Kusumawardhani, I. P., Kwon, A. H. K., Vasconcelos, A. C., Cunha, L. D., Mayer, A. E., Shen, Y., Wu, W.-L., Kambal, A., et al. (2016) · Science · doi:10.1126/science.aad9948 · Cited by 647
New IBD genetics: common pathways with other diseases
Lees, C. W., Barrett, J. C., Parkes, M., & Satsangi, J. (2011) · Gut · doi:10.1136/gut.2009.199679 · Cited by 635
Carvalho, F. A., Koren, O., Goodrich, J. K., Johansson, M. E. V., Nalbantoglu, I., Aitken, J. D., Su, Y., Chassaing, B., Walters, W. A., González, A., et al. (2012) · Cell Host & Microbe · doi:10.1016/j.chom.2012.07.004 · Cited by 548
The PYRIN-CARD Protein ASC Is an Activating Adaptor for Caspase-1
Srinivasula, S. M., Poyet, J.-L., Razmara, M., Datta, P., Zhang, Z., & Alnemri, E. S. (2002) · Journal of Biological Chemistry · doi:10.1074/jbc.c200179200 · Cited by 573
Nod2 is required for the regulation of commensal microbiota in the intestine
Petnicki-Ocwieja, T., Hrncir, T., Liu, Y.-J., Biswas, A., Hudcovic, T., Tlaskalova-Hogenova, H., & Kobayashi, K. S. (2009) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0907722106 · Cited by 564
Human genetic variation and the gut microbiome in disease
Hall, A. B., Tolonen, A. C., & Xavier, R. J. (2017) · Nature Reviews Genetics · doi:10.1038/nrg.2017.63 · Cited by 517
Variation in interleukin 7 receptor α chain (IL7R) influences risk of multiple sclerosis
Lundmark, F., Duvefelt, K., Iacobaeus, E., Kockum, I., Wallström, E., Khademi, M., Oturai, A., Ryder, L. P., Saarela, J., Harbo, H. F., et al. (2007) · Nature Genetics · doi:10.1038/ng2106 · Cited by 483
Advances in inflammatory bowel disease pathogenesis: linking host genetics and the microbiome
Knights, D., Lassen, K. G., & Xavier, R. J. (2013) · Gut · doi:10.1136/gutjnl-2012-303954 · Cited by 468
Recent insights into the immunopathogenesis of psoriasis provide new therapeutic opportunities
Nickoloff, B. J., & Nestle, F. O. (2004) · Journal of Clinical Investigation · doi:10.1172/jci200422147 · Cited by 544
The Commensal Microbiota and Enteropathogens in the Pathogenesis of Inflammatory Bowel Diseases
Chassaing, B., & Darfeuille–Michaud, A. (2011) · Gastroenterology · doi:10.1053/j.gastro.2011.01.054 · Cited by 443
Influence of mode of delivery on gut microbiota composition in seven year old children: Table 1
Salminen, S., Gibson, G. R., McCartney, A. L., & Isolauri, E. (2004) · Gut · doi:10.1136/gut.2004.041640 · Cited by 435
Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn's disease
Abreu, M. T., Taylor, K. D., Lin, Y.-C., Hang, T., Gaiennie, J., Landers, C. J., Vasiliauskas, E. A., Kam, L. Y., Rojany, M., Papadakis, K. A., et al. (2002) · Gastroenterology · doi:10.1053/gast.2002.35393 · Cited by 428
Immune Responses to the Microbiota at the Intestinal Mucosal Surface
Duerkop, B. A., Vaishnava, S., & Hooper, L. V. (2009) · Immunity · doi:10.1016/j.immuni.2009.08.009 · Cited by 424
Zaki, M. H., Vogel, P., Body-Malapel, M., Lamkanfi, M., & Kanneganti, T.-D. (2010) · The Journal of Immunology · doi:10.4049/jimmunol.1002046 · Cited by 411
Salzman, N. H., Underwood, M. A., & Bevins, C. L. (2007) · Seminars in Immunology · doi:10.1016/j.smim.2007.04.002 · Cited by 414
Theory and practice in quantitative genetics
Posthuma, D., Beem, A. L., de Geus, E. J. C., van Baal, G. C. M., von Hjelmborg, J. B., Iachine, I., & Boomsma, D. I. (2003) · Twin Research · doi:10.1375/136905203770326367 · Cited by 416
Bacillary dysentery as a causative factor of irritable bowel syndrome and its pathogenesis
Wang, L.-H., Fang, X.-C., & Pan, G.-Z. (2004) · Gut · doi:10.1136/gut.2003.021154 · Cited by 387
Gut-associated bacterial microbiota in paediatric patients with inflammatory bowel disease
Conte, M. P., Schippa, S., Zamboni, I., Penta, M., Chiarini, F., Seganti, L., Osborn, J., Falconieri, P., Borrelli, O., & Cucchiara, S. (2006) · Gut · doi:10.1136/gut.2005.078824 · Cited by 383
Welte, T., Zhang, S. S. M., Wang, T., Zhang, Z., Hesslein, D. G. T., Yin, Z., Kano, A., Iwamoto, Y., Li, E., Craft, J. E., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0237137100 · Cited by 381
Fernandez, E. M., Valenti, V., Rockel, C., Hermann, C., Pot, B., Boneca, I. G., & Grangette, C. (2011) · Gut · doi:10.1136/gut.2010.232918 · Cited by 376
Hold, G. L. (2014) · World Journal of Gastroenterology · doi:10.3748/wjg.v20.i5.1192 · Cited by 365
Interactions between Intestinal Microbiota and Host Immune Response in Inflammatory Bowel Disease
Zhang, M., Sun, K., Wu, Y., Yang, Y., Tso, P., & Wu, Z. (2017) · Frontiers in Immunology · doi:10.3389/fimmu.2017.00942 · Cited by 347
The genetics of multiple sclerosis: SNPs to pathways to pathogenesis
Oksenberg, J. R., Baranzini, S. E., Sawcer, S., & Hauser, S. L. (2008) · Nature Reviews Genetics · doi:10.1038/nrg2395 · Cited by 347
Modulation of inflammation by autophagy: Consequences for human disease
Netea-Maier, R. T., Plantinga, T. S., van de Veerdonk, F. L., Smit, J. W., & Netea, M. G. (2016) · Autophagy · doi:10.1080/15548627.2015.1071759 · Cited by 349
Inflammatory Bowel Disease as a Model for Translating the Microbiome
Huttenhower, C., Kostic, A. D., & Xavier, R. J. (2014) · Immunity · doi:10.1016/j.immuni.2014.05.013 · Cited by 332
Scanlan, P. D., Shanahan, F., O'Mahony, C., & Marchesi, J. R. (2006) · Journal of Clinical Microbiology · doi:10.1128/jcm.00312-06 · Cited by 330
Endosomes are specialized platforms for bacterial sensing and NOD2 signalling
Nakamura, N., Lill, J. R., Phung, Q., Jiang, Z., Bakalarski, C., de Mazière, A., Klumperman, J., Schlatter, M., Delamarre, L., & Mellman, I. (2014) · Nature · doi:10.1038/nature13133 · Cited by 313
Chen, L., Wilson, J. E., Koenigsknecht, M. J., Chou, W.-C., Montgomery, S. A., Truax, A. D., Brickey, W. J., Packey, C. D., Maharshak, N., Matsushima, G. K., et al. (2017) · Nature Immunology · doi:10.1038/ni.3690 · Cited by 310
Martín, R., Chain, F., Miquel, S., Lu, J., Gratadoux, J.-J., Sokol, H., Verdu, E. F., Bercik, P., Bermúdez-Humarán, L. G., & Langella, P. (2014) · Inflammatory Bowel Diseases · doi:10.1097/01.mib.0000440815.76627.64 · Cited by 284
Metadata
- Authors
- Hugot, J.-P., Chamaillard, M., Zouali, H., Lesage, S., Cézard, J.-P., Belaiche, J., Almer, S., Tysk, C., O'Morain, C. A., Gassull, M., Binder, V., Finkel, Y., Cortot, A., Modigliani, R., Laurent-Puig, P., Gower-Rousseau, C., Macry, J., Colombel, J.-F., Sahbatou, M., & Thomas, G.
- Affiliations
- Fondation Jean Dausset-CEPH (FR)
- Inserm (FR)
- Hôpital Robert-Debré (FR)
- Linköping University (SE)
- Örebro University Hospital (SE)
- Tallaght University Hospital (IE)
- Hospital Universitari Germans Trias i Pujol (ES)
- Herlev Hospital (DK)
- Hôpital Albert Calmette (FR)
- Hôpital Saint-Louis (FR)
- Corresponding author
- Thomas, Gilles
- ORCID
- Venue
- Nature
- Published
- 2001-05
- Volume
- 411
- Issue
- 6837
- Pages
- 599-603
- ISSN
- 0028-0836 (ISSN-L)
- 1476-4687
- OpenAlex
- W1642457845
- Cited by
- 5,591
- References
- 28
- Citations by year
- 2026: 58 · 2025: 72 · 2024: 81 · 2023: 185 · 2022: 118 · 2021: 122 · 2020: 136 · 2019: 141 · 2018: 163 · 2017: 154 · 2016: 163 · 2015: 186 · 2014: 228 · 2013: 248 · 2012: 260
- FWCI
- 171.27
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature (publishedVersion)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- Topics
- Health Sciences › Medicine › Gastroenterology › Inflammatory Bowel Disease
- Life Sciences › Immunology and Microbiology › Immunology › Immune Response and Inflammation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Crohn's disease, NOD2, genetic susceptibility, ulcerative colitis, inflammatory bowel disease, NF-κB activation, monocytes, frameshift mutation, missense mutations, positional cloning, association mapping, pathogen recognition
- MeSH terms
- Alleles, Carrier Proteins, Chromosomes, Human, Pair 16, Cloning, Molecular, Colitis, Ulcerative, Crohn Disease, Gene Frequency, Genotype, Humans, Leucine, Genetic Linkage, Proteins, Genetic Variation, Signal Transduction, NF-kappa B, Genetic Predisposition to Disease, Repetitive Sequences, Amino Acid, Polymorphism, Single Nucleotide, Intracellular Signaling Peptides and Proteins, Nod2 Signaling Adaptor Protein
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
