Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease (original) (raw)

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References

1. Calkins, B. M. & Mendelhoff, A. I. in Inflammatory Bowel Disease (eds Kirsner, J. B. & Shorter, R. G.) 31–68 (Williams & Wilkins, Baltimore, 1995).
   Google Scholar
2. Hugot, J. P., Zouali, H., Lesage, S. & Thomas, G. Etiology of the inflammatory bowel diseases. Int. J. Colorectal Dis. 14, 2–9 (1999).
   Article CAS Google Scholar
3. Hugot, J. P. et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature 379, 821–823 (1996).
   Article ADS CAS Google Scholar
4. Olavesen, M. G. et al. Analysis of single-nucleotide polymorphisms in the interleukin-4 receptor gene for association with inflammatory bowel disease. Immunogenetics 51, 1–7 (2000).
   Article CAS Google Scholar
5. Hugot, J. P. et al. Mutation screening in the CD19 and CD43 (sialophorin) genes in Crohn Disease patients. Gastroenterology 116, A740 (1999).
   Google Scholar
6. Zouali, H. et al. Refined mapping of the inflammatory bowel disease 1 gene. Eur. J. Hum. Genet. (submitted).
7. Spielman, R. S., McGinnis, R. E. & Ewens, W. J. Transmission test for linkage disequilibrium: the insulin gene region and insulin-dependent diabetes mellitus (IDDM). Am. J. Hum. Genet. 52, 506–516 (1993).
   CAS PubMed PubMed Central Google Scholar
8. Martin, E. R., Monks, S. A., Warren, L. L. & Kaplan, N. A test for linkage and association in general pedigrees: the pedigree disequilibrium test. Am. J. Hum. Genet. 67, 146–154 (2000).
   Article CAS Google Scholar
9. Kuster, W., Pascoe, L., Purrmann, J., Funk, S. & Majewski, F. The genetics of Crohn's disease: complex segregation analysis of a family study with 265 patients with Crohn's disease and 5387 relatives. Am. J. Med. Genet. 32, 105–108 (1989).
   Article CAS Google Scholar
10. Monsen, U., Iselius, L. & Hellers, G. Evidence for a recessive gene in Crohn's disease. Acta Chir. Scand. 559 (suppl.), 7–42 (1990).
    Google Scholar
11. Orholm, M. et al. Investigation of inheritance of chronic inflammatory bowel disease by complex segregation analysis. Br. Med. J. 306, 20–24 (1993).
    Article CAS Google Scholar
12. Colombel, J. F. et al. Clinical characteristics of Crohn's disease in 72 families. Gastroenterology 111, 604–607 (1996).
    Article CAS Google Scholar
13. The IBD International Genetics Consortium. International collaboration provides convincing linkage replication in complex disease through analysis of a large pooled data set: Crohn disease and chromosome 16. Am. J., Hum. Genet. 68, 1165–1171 (2001).
    Article Google Scholar
14. Ogura, Y. et al. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kB. J. Biol. Chem. 276, 4812–4818 (2001).
    Article CAS Google Scholar
15. Inohara, N., Ogura, Y., Chen, F. F., Muto, A. & Nuñez, G. Human Nod1 confers responsiveness to bacterial lipopolysaccharides. J. Biol. Chem. 276, 2551–2554 (2001).
    Article CAS Google Scholar
16. Inohara, N. et al. Nod 1, an Apaf-1-like activator of caspase-9 and nuclear factor kB. J. Biol. Chem. 274, 14560–14567 (1999).
    Article CAS Google Scholar
17. Bertin, J. et al. Human CARD4 protein is a novel CED-4/Apaf-1 cell death family member that activates NF-kB. J. Biol. Chem. 274, 12955–12958 (1999).
    Article CAS Google Scholar
18. Inohara, N. et al. An induced proximity model for NF-kB activation in the Nod1/RICK and RIP signaling pathways. J. Biol. Chem. 275, 27823–27831 (2000).
    CAS PubMed Google Scholar
19. Poltorak, A. et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 282, 2085–2088 (1998).
    Article ADS CAS Google Scholar
20. Sundberg, J. P., Elson, C. O., Bedigian, H. & Birkenmeier, E. H. Spontaneous, heritable colitis in a new substrain of C3H/HeJ mice. Gastroenterology 107, 1726–1735 (1994).
    Article CAS Google Scholar
21. McKay, D. M. Intestinal inflammation and the gut microflora. Can. J. Gastroenterol. 13, 509–516 (1999).
    Article CAS Google Scholar
22. Schreiber, S., Nikolaus, S. & Hampe, J. Activation of nuclear factor kB in inflammatory bowel disease. Gut 42, 477–484 (1998).
    Article CAS Google Scholar
23. Auphan, N., DiDonato, J. A., Rosette, C., Helmberg, A. & Karin, M. Immunosuppression by glucocorticoids: inhibition of NF-kB activity through induction of IκB synthesis. Science 270, 286–290 (1995).
    Article ADS CAS Google Scholar
24. Wahl, C., Liptay, S., Adler, G. & Schmid, R. M. Sulfasalazine: a potent and specific inhibitor of nuclear factor κB. J. Clin. Invest. 101, 1163–1174 (1998).
    Article CAS Google Scholar
25. Satsangi, J. et al. Two stage genome wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosome 3, 7 and 12. Nature Genet. 14, 199–202 (1996).
    Article CAS Google Scholar
26. Hampe, J. et al. Linkage of inflammatory bowel disease to Human chromosome 6p. Am. J. Hum. Genet. 65, 1647–1655 (1999).
    Article CAS Google Scholar
27. Cho, J. H. et al. Linkage and linkage disequilibrium in chromosome band 1p36 in American Chaldeans with inflammatory bowel disease. Hum. Mol. Genet. 9, 1425–1432 (2000).
    Article CAS Google Scholar
28. Duerr, R. H., Barmada, M. M., Zhang, L., Pfutzer, R. & Weeks, D. E. High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12. Am. J. Hum. Genet. 66, 1857–1862 (2000).
    Article CAS Google Scholar
29. Rioux, J. D. et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am. J. Hum. Genet. 66, 1863–1870 (2000).
    Article CAS Google Scholar
30. Lennard-Jones, J. E. Classification of inflammatory bowel disease. Scand. J. Gastroenterol. 170 (suppl.), 2–6 (1989).
    Article CAS Google Scholar

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Acknowledgements

We acknowledge patients and their families, and thank family recruitment doctors: J. Balanzo, B. Bonaz, Y. Bouhnik, G. Cadiot, S. Cucchiara, B. Crusius, J. J. Delchier, B. Duclos, J. L. Dupas, J. P. Galmiche, J. P. Gendre, D. Golfain, C. Grännö, D. Heresbach, A. Lachaux, H. Lautraite, C. Lenaerts, E. Lerebours, V. Levy, R. Löfberg, H. Malchow, P. Marteau, A. Morali, F. Pallone, S. Pena, A. Rotenberg, I. Rousseau, J. Schmitz, F. Shanahan, I. Sobhani, H. Svensson, A. Van Gossum, M. Van Winckel and M. Veyrac. For assistance we are grateful to J. C. Beaudoin, F. Chareyre, C. Giudicelli, T. Hung Bui, M. Legrand, A. Marcadet, A. Martins. C. de Toma, E. Tubacher. We thank H. Cann for critically reading the manuscript. This project received support from European Community, MENRT, INSERM, Direction Générale de la Santé, Association François Aupetit, IRMAD and the Swedish Society of Medicine.

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Authors and Affiliations

1. Fondation Jean Dausset CEPH, 27 rue J. Dodu, Paris, 75010, France
   Jean-Pierre Hugot, Mathias Chamaillard, Habib Zouali, Suzanne Lesage, Mourad Sahbatou & Gilles Thomas
2. INSERM U434, 27 rue J. Dodu, Paris, 75010, France
   Jean-Pierre Hugot, Mathias Chamaillard, Pierre Laurent-Puig & Gilles Thomas
3. Department of Paediatric Gastroenterology, PEWG-IBD, Hôpital Robert Debré, Paris, 75019, France
   Jean-Pierre Hugot & Jean-Pierre Cézard
4. GETAID and Department of Gastroenterology, CHU de Liège, 4000, Belgium
   Jacques Belaiche
5. Division of Gastroenterology and Hepatology, IHM, Linköpings Universitet, Linköping, SE-581 85, Sweden
   Sven Almer
6. Department of Gastroenterology, Örebro Medical Center Hospital, Örebro, SE-701 85, Sweden
   Curt Tysk
7. Department of Gastroenterology, Adelaide & Meath Hospital, Dublin, 24, Ireland
   Colm A. O'Morain
8. Department of Gastroenterology, Hospital Universitari Germans Trias i Pujol, Badalona, 08916, Spain
   Miquel Gassull
9. Department of Gastroenterology Herlev Hospital, Herlev, 2730, Denmark
   Vibeke Binder
10. Astrid Lindgren Children′s Hospital, Stockholm, SE-161 76, Sweden
    Yigael Finkel
11. Registre EPIMAD, Hôpital Calmette, Lille, 59037, France
    Antoine Cortot, Corine Gower-Rousseau & Jean-Frédéric Colombel
12. Department of Gastroenterology, Hopital Saint Louis, Paris, 75475, France
    Robert Modigliani
13. INSERM U458, Hôpital Robert Debré, Paris, 75019, France
    Jeanne Macry
14. Department of Surgery, Hôpital Saint Antoine, Paris, 75012, France
    Gilles Thomas

Authors

1. Jean-Pierre Hugot
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2. Mathias Chamaillard
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3. Habib Zouali
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4. Suzanne Lesage
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5. Jean-Pierre Cézard
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6. Jacques Belaiche
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7. Sven Almer
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8. Curt Tysk
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9. Colm A. O'Morain
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10. Miquel Gassull
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11. Vibeke Binder
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12. Yigael Finkel
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13. Antoine Cortot
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14. Robert Modigliani
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15. Pierre Laurent-Puig
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16. Corine Gower-Rousseau
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17. Jeanne Macry
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18. Jean-Frédéric Colombel
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19. Mourad Sahbatou
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20. Gilles Thomas
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Corresponding author

Correspondence toGilles Thomas.

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Hugot, JP., Chamaillard, M., Zouali, H. et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease.Nature 411, 599–603 (2001). https://doi.org/10.1038/35079107

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• Received: 05 February 2001
• Accepted: 30 March 2001
• Issue Date: 31 May 2001
• DOI: https://doi.org/10.1038/35079107