Role of the CARD15 gene in the pathogenesis of Crohn disease: phenotypic classification and prognostic implications

References

• Marteau P. Inflammatory bowel disease. Endoscopy 2002; 34: 63–8.
   PubMedGoogle Scholar
• Shanahan F. Crohn’s disease. Lancet 2002;359:62–9.
   PubMed Web of Science ®Google Scholar
• Cho JH. The Nod2 gene in Crohn’s disease: implications for future research into the genetics and immunology of Crohn’s disease. Inflamm Bowel Dis 2001;7:271–5.
   PubMed Web of Science ®Google Scholar
• Elson CO. Genes, microbes, and T cells: new therapeutic targets in Crohn’s disease. N Engl J Med 2002;346:614–6.
   PubMedGoogle Scholar
• Sartor RB, Rath HC, Lichtman SN, van Tol EA. Animal models of intestinal and joint inflammation. Baillieres Clin Rheumatol 1996;10:55–76.
   Google Scholar
• Lichtman SN, Keku J, Schwab JH, Sartor RB. Evidence for peptidoglycan absorption in rats with experimental small bowel bacterial overgrowth. Infect Immun 1991;59:555–62.
   PubMed Web of Science ®Google Scholar
• Sartor RB. Review article: Role of the enteric microflora in thepathogenesis of intestinal inflammation and arthritis. Aliment Pharmacol Ther 1997;11 Suppl 3:17–22; discussion 3.
   Google Scholar
• Sartor RB. Pathogenesis and immune mechanisms of chronic inflammatory bowel diseases. Am J Gastroenterol 1997;92:5S–11S.
   Google Scholar
• Harper PH, Truelove SC, Lee EC, et al. Split ileostomy and ileocolostomy for Crohn’s disease of the colon and ulcerative colitis: a 20 year survey. Gut 1983;24:106–13.
   PubMed Web of Science ®Google Scholar
• Rutgeerts P, Goboes K, Peeters M, et al. Effect of faecal stream diversion on recurrence of Crohn’s disease in the neoterminal ileum. Lancet 1991;338:771–4.
   PubMed Web of Science ®Google Scholar
• Van Heel DA, McGovern DP, Jewell DP. Crohn’s disease: genetic susceptibility, bacteria, and innate immunity. Lancet 2001;357:1902–4.
   Google Scholar
• Grandbastien B, Peeters M, Franchimont D, et al. Anticipation in familial Crohn’s disease. Gut 1998;42:170–4.
   PubMedGoogle Scholar
• Peeters M, Nevens H, Baert F, et al. Familial aggregation in Crohn’s disease: increased age-adjusted risk and concordance in clinical characteristics. Gastroenterology 1996;111:597–603.
   PubMed Web of Science ®Google Scholar
• Meucci G, Vecchi M, Torgano G, et al. Familial aggregation of inflammatory bowel disease in northern Italy: a multicenter study. Gruppo di Studio per le Malattie Infiammatorie Intestinali (IbD Study Group). Gastroenterology 1992;103:514–9.
   Google Scholar
• Hugot JP, Laurent-Puig P, Gower-Rousseau C, et al. Mapping of a susceptibility locus for Crohn’s disease on chromosome 16. Nature 1996;379:821–3.
   PubMed Web of Science ®Google Scholar
• Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine–rich repeat variants with susceptibility to Crohn’s disease. Nature 2001;411:599–603.
   PubMed Web of Science ®Google Scholar
• Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001;411:603–6.
   PubMed Web of Science ®Google Scholar
• Ogura Y, Inohara N, Benito A, et al. Nod2, aNod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem 2001;276:4812–8.
   PubMed Web of Science ®Google Scholar
• Hampe J, Cuthbert A, Croucher PJ, et al. Association between insertion mutation in NOD2 gene and Crohn’s disease in German and British populations. Lancet 2001;357:1925–8.
   PubMed Web of Science ®Google Scholar
• Slow E. Identification of a Crohn’s disease susceptibility gene. Clin Genet 2001;60:174–6.
   PubMedGoogle Scholar
• McGovern DP, van Heel DA, Ahmad T, Jewell DP. NOD2 (CARD15), the first susceptibility gene for Crohn’s disease. Gut 2001;49:752–4.
   PubMed Web of Science ®Google Scholar
• Inohara N, Ogura Y, Nunez G. Nods: a family of cytosolic proteins that regulate the host response to pathogens. Curr Opin Microbiol 2002;5:76–80.
   Google Scholar
• Beutler B. Autoimmunity and apoptosis: the Crohn’s connection. Immunity 2001;15:5–14.
   PubMedGoogle Scholar
• Inohara N, Nunez G. The NOD: a signaling module that regulates apoptosis and host defense against pathogens. Oncogene 2001; 20:6473–81.
   PubMedGoogle Scholar
• Kobayashi K, Inohara N, Hernandez LD, et al. RICK/Rip2/ CARDIAK mediates signalling for receptors of the innate and adaptive immune systems. Nature 2002;416:194–9.
   PubMed Web of Science ®Google Scholar
• Kobe B, Deisenhofer J. The leucine–rich repeat: a versatile binding motif. Trends Biochem Sci 1994;19:415–21.
   PubMed Web of Science ®Google Scholar
• Kobe B, Kajava AV. The leucine–rich repeat as a protein recognition motif. Curr Opin Struct Biol 2001;11:725–32.
   PubMed Web of Science ®Google Scholar
• Jang LK, Lee ZH, Kim HH, et al. A novel leucine–rich repeat protein (LRR-1): potential involvement in 4–1BB-mediated signal transduction. Mol Cells 2001;12:304–12.
   PubMedGoogle Scholar
• Marino M, Braun L, Cossart P, Ghosh P. Structure of the lnlB leucine–rich repeats, a domain that triggers host cell invasion by the bacterial pathogen L. monocytogenes. Mol Cell 1999;4:1063–72.
   PubMed Web of Science ®Google Scholar
• Hartman AB, Venkatesan M, Oaks EV, Buysse JM. Sequence and molecular characterization of a multicopy invasion plasmid antigen gene, ipaH, of Shigella flexneri. J Bacteriol 1990;172: 1905–15.
   PubMed Web of Science ®Google Scholar
• Miao EA, Scherer CA, Tsolis RM, et al. Salmonella typhimurium leucine–rich repeat proteins are targeted to the SPI1 and SPI2 type III secretion systems. Mol Microbiol 1999;34:850–64.
   PubMedGoogle Scholar
• Van Gijsegem F, Gough C, Zischek C, et al. The hrp gene locus of Pseudomonas solanacearum, which controls the production of a type III secretion system, encodes eight proteins related to components of the bacterial flagellar biogenesis complex. Mol Microbiol 1995;15:1095–114.
   PubMed Web of Science ®Google Scholar
• Marino M, Braun L, Cossart P, Ghosh P. A framework for interpreting the leucine–rich repeats of the Listeria internalins. Proc Natl Acad Sci USA 2000;97:8784–8.
   PubMedGoogle Scholar
• Hugot JP. [Role of NOD2 gene in Crohn’s disease.] Gastroenterol Clin Biol 2002;26:13–5.
   PubMedGoogle Scholar
• Judge T, Lichtenstein GR. The NOD2 gene and Crohn’s disease: another triumph for molecular genetics. Gastroenterology 2002; 122:826–8.
   PubMedGoogle Scholar
• Frankish H. Crohn’s gene identified. Lancet 2001;357:1678.
   Google Scholar
• Hugot JP, Lesage S, Zouali H, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease (#247). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–29.
   Google Scholar
• Lesage S, Zouali H, Cezard JP, et al. CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 2002;70:845–57.
   PubMed Web of Science ®Google Scholar
• Cuthbert AP, Fisher SA, Mirza MM, et al. The contribution of NOD2 gene mutations to the risk and site of disease in inflammatory bowel disease. Gastroenterology 2002; 122: 86774.
   Google Scholar
• Bonen DK, Ogura Y, Nicolae DL, et al. Functional and genetic characterization of major CD-associated NOD2 variants. M1411. Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–296.
   Google Scholar
• Crane AM, Bradbury L, Van Heel DA, et al. Role of NOD2 variants in spondylarthritis. Arthritis Rheum 2002;46:1629–33.
   PubMed Web of Science ®Google Scholar
• Van der Paardt M, Crusius JBA, De Koning MHMT, et al. CARD15 gene mutations are not associated with ankylosing spondylitis. Genes and Immunity 2003;4:77–8.
   PubMedGoogle Scholar
• Khan MA. Update on spondyloarthropathies. Ann Intern Med 2002;136:896–907.
   PubMed Web of Science ®Google Scholar
• Miceli-Richard C, Zouali H, Lesage S, et al. CARD15/NOD2 analyses in spondylarthropathy. Arthritis Rheum 2002; 46: 1405–6.
   PubMedGoogle Scholar
• Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001;29: 19–20.
   Google Scholar
• Inoue N, Tamura K, Kinouchi Y, et al. Lack of common NOD2 variants in Japanese patients with Crohn’s disease. Gastroenterology 2002;123:86–91.
   PubMed Web of Science ®Google Scholar
• Sugimura M, Kinouchi Y, Takahashi S, et al. Sequence analysis of the NOD2 gene in Japanese patients with Crohn’s disease. M1402. Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A294.
   Google Scholar
• Negoro K, Kinouchi Y, Hiwatashi N, et al. Crohn’s disease is associated with novel polymorphisms in the 5'-flanking region of the tumor necrosis factor gene. Gastroenterology 1999; 117: 1062–8.
   PubMed Web of Science ®Google Scholar
• Nakajima A, Matsuhashi N, Kodama T, et al. HLA-linked susceptibility and resistance genes in Crohn’s disease. Gastroenterology 1995;109:1462–7.
   PubMed Web of Science ®Google Scholar
• Yamazaki K, Takazoe M, Tanaka T, et al. Absence of mutation in the NOD2/CARD15 gene among 483 Japanese patients with Crohn’s disease. J Hum Genet 2002;47:469–72.
   PubMed Web of Science ®Google Scholar
• Bonen DK, Nicolae DL, Moran T, et al. Racial differences in Nod2 variation: characterization of Nod2 in African-Americans with Crohn’s disease (#248). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–29.
   Google Scholar
• Adams KE, Quak EJ, Bryce M, et al. The impact of the NOD2 frameshift risk allele in Australian CD (#M1415). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–297.
   Google Scholar
• Yang H, Taylor KD, Lin Y, et al. Evidence for additional mutations in the NOD2 gene conferring risk for Crohn’s disease (CD) in Ashkenazi Jews (M1404). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–295.
   Google Scholar
• Gasche C, Scholmerich J, Brynskov J, et al. A simple classification of Crohn’s disease: report of the Working Party for the World Congresses of Gastroenterology, Vienna 1998. Inflamm Bowel Dis 2000;6:8–15.
   PubMed Web of Science ®Google Scholar
• Lennard-Jones JE. Classification of inflammatory bowel disease. Scand J Gastroenterol 1989;24 Suppl 170:2–6.
   Web of Science ®Google Scholar
• Murillo L, Crusius JB, van Bodegraven AA, et al. CARD15 gene and the classification of Crohn’s disease. Immunogenetics 2002; 54:59–61.
   PubMedGoogle Scholar
• Burenhult G. De Eerste Mensen. Geïllustreerde geschiedemis van mensenheid. Dutch edn, 1994. Sheena Coupe Utrecht, The Netherlands.
   Google Scholar
• Walvoort HC, Peña AS. Crohn’s disease: a challenge to the entity concept 1988. Elsevier, B.V. Florida, USA.
   Google Scholar
• Fiol M. Panel II Morbus Crohn. In: Proceedings of the International Congress of Gastroenterology (ASNEMG). 1961. Excerpta Medica Foundation, Amsterdam, Leiden/Noordwijk, The Netherlands 20–24 April 1960. p. 450.
   Google Scholar
• Pena AS. [Crohn’s disease in Spain. Don Carlos Marina Fiol, 30 years ago]. Rev Esp Enferm Dig 1991;80: 219–20.
   Google Scholar
• Gasche C, Alizadeh BZ, Pena AS. Genotype-Phenotype correlations: How many disorders constitute IBD? Review in depth. Eur J Gastroenterol Hepatol 2002. In press.
   Google Scholar
• Vermeire S, Wild G, Kocher K, et al. CARD15 Genetic variation in a Quebec population: prevalence, genotype–phenotype relationship, and haplotype structure. Am J Hum Genet 2002; 71:74–83.
   PubMed Web of Science ®Google Scholar
• Vermeire S, Louis E, Rutgeerts P, et al. NOD2/CARD15 does not influence response to infliximab in Crohn’s disease. Gastroenterology 2002;123:106–11.
   PubMed Web of Science ®Google Scholar
• Ahmad T, Armuzzi A, Bunce M, et al. The molecular classification of the clinical manifestations of Crohn’s disease. Gastroenterology 2002;122:854–66.
   PubMed Web of Science ®Google Scholar
• Radlmayr M, Torok HP, Martin K, Folwaczny C. The c-insertion mutation of the NOD2 gene is associated with fistulizing and fibrostenotic phenotypes in Crohn’s disease. Gastroenterology 2002;122:2091–2.
   PubMed Web of Science ®Google Scholar
• Vermeire S, Cousineau J, Dufresne L, et al. NOD2/CARD15 mutations in Crohn’s disease in Quebec: prevalence and association with clinical phenotypes(M1407). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–295.
   Google Scholar
• Zhou Z, Lin XY, Akolkar P, et al. Variation at NOD2 in familial and sporadic cases of Crohn’s disease in the Ashkenazi Jewish population (#M1409). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–296.
   Google Scholar
• Vavassori P, Biancone L, De Nigris F, et al. NOD2 gene mutation and clinical pattern of Crohn’s disease (M1412). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–296.
   Google Scholar
• Folwaczny C, Radlmayr M, Martin K, Toeroek P. The c-insertion mutation of the NOD2 gene is associated with fistulizing and fibrostenotic phenotypes in Crohn’s disease (#M1414). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002; 122:A–297.
   Google Scholar
• Van der Linde K, Boor PC, Houwing-Duistermaat JJ, et al. NOD2 and Crohn’s disease: healthy homozygous carriers of 3020insc mutation (M1417). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–297.
   Google Scholar
• Abreu MT, Taylor KD, Lin YC, et al. Mutations in NOD2 are associated with fibrostenosing disease in patients with Crohn’s disease. Gastroenterology 2002;123:679–88.
   PubMed Web of Science ®Google Scholar
• Crichton DN, Arnott IDR, Watts D, et al. NOD2/CARD15 mutations in a Scottish Crohn’s disease population (#M1420). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–298.
   Google Scholar
• Vermeire S, Esters N, Pierik M, et al. Detailed study on phenotypical associations of NOD2/CARD15 mutations in Crohn’s disease (M1413). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–296.
   Google Scholar
• Hampe J, Grebe J, Nikolaus S, et al. Association of NOD2 (CARD 15) genotype with clinical course of Crohn’s disease: a cohort study. Lancet 2002;359:1661–5.
   PubMed Web of Science ®Google Scholar
• Hampe J, Grebe J, Nikolaus S, et al. The NOD2 genotype and the clinical course of Crohn’s disease (#249). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–29.
   Google Scholar
• Louis E, Hugot JP, Colombel JF, et al. NOD2/CARD15 mutations in Crohn’s disease are associated with young age at diagnosis and ileal location. 2002. Gastroenterol, San Francisco, CA. M1405.
   Google Scholar
• Annese V, Latiano A, Andreoli A, et al. Mutations ofNOD2 gene weakly correlate with the Vienna classification of Crohn’s disease (CD) (#M1408). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–295.
   Google Scholar
• Vermeire S, Reinisch W, Joossens S, et al. NOD2/CARD15 genotyping in patients with indeterminate colitis (IC): helpful towards definitive diagnosis? (M1416). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–297.
   Google Scholar
• Vavassori P, Borgianni P, D’Apice MR, et al. Frequence of 3020insc mutation of the NOD2 gene in Crohn’s disease: an Italian study (M1418). Gastroenterology. Digestive Disease Week and The 103rd Annual Meeting of the American Gastroenterological Association 2002;122:A–297,8.
   Google Scholar