Detection of muramyl dipeptide-sensing pathway defects in patients with Crohn's disease

Inflammatory Bowel Diseases

Volumn 12, Issue 7, 2006, Pages 598-605

  Van Heel, David A ^a   Hunt, Karen A ^a   King, Kathy ^b   Ghosh, Subrata ^a   Gabe, Simon M ^c,d   Mathew, Christopher G ^b   Forbes, Alastair ^c,d   Playford, Raymond J ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b KING'S COLLEGE LONDON   (United Kingdom)

^c ST MARK S HOSPITAL   (United Kingdom)

^d UNIVERSITY COLLEGE LONDON HOSPITALS   (United Kingdom)

Author keywords

CARD15; Crohn's disease; Diagnosis; Muramyl dipeptide; NOD2

Indexed keywords

ARGININE; AZATHIOPRINE; CORTICOSTEROID; CYCLOSPORIN; CYTOKINE; GLYCINE; HYDROXYCHLOROQUINE; IMMUNOSUPPRESSIVE AGENT; INFLIXIMAB; INTERLEUKIN 1BETA; INTERLEUKIN 8; LEUCINE; LIPOPOLYSACCHARIDE; MERCAPTOPURINE; METHOTREXATE; MURAMYL DIPEPTIDE; PREDNISOLONE; TRYPTOPHAN;

ARTICLE; CARD15 GENE; CELL STIMULATION; COHORT ANALYSIS; CONTROLLED STUDY; CROHN DISEASE; CYTOKINE PRODUCTION; CYTOKINE RELEASE; DIAGNOSTIC PROCEDURE; DIAGNOSTIC VALUE; DISEASE ACTIVITY; GENE; GENE MUTATION; GENOTYPE; HETEROZYGOTE; HUMAN; HUMAN CELL; IMMUNE RESPONSE; IMMUNOSUPPRESSIVE TREATMENT; INFLAMMATION; MAJOR CLINICAL STUDY; NOD2 GENE; PERIPHERAL BLOOD MONONUCLEAR CELL; PRIORITY JOURNAL; PROSPECTIVE STUDY; SENSITIVITY AND SPECIFICITY; VALIDATION PROCESS;

ACETYLMURAMYL-ALANYL-ISOGLUTAMINE; CROHN DISEASE; CYTOKINES; ENZYME-LINKED IMMUNOSORBENT ASSAY; GENOTYPE; HETEROZYGOTE; HUMANS; IMMUNOSUPPRESSIVE AGENTS; INFLAMMATION; INTERLEUKIN-1BETA; INTERLEUKIN-8; LIPOPOLYSACCHARIDES; MONOCYTES; MUTATION; SENSITIVITY AND SPECIFICITY;

EID: 33745559105     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1097/01.ibd.0000225344.21979.89     Document Type: Article

References (25)

1. 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.
2. Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature. 2001;411:603-606.
3. Economou M, Trikalinos TA, Loizou KT, et al. Differential effects of NOD2 variants on Crohn's disease risk and phenotype in diverse populations: a metaanalysis. Am J Gastroenterol. 2004;99:2393-404.
4. 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;70:845-857.
5. van Heel DA, Ghosh S, Butler M, et al. Muramyl dipeptide and toll-like receptor sensitivity in NOD2-associated Crohn's disease. Lancet. 2005;365:1794-1796.
6. Eichler EE. Widening the spectrum of human genetic variation. Nat Genet. 2006;38:9-11.
7. King K, Sheikh MF, Cuthbert AP, et al. Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15. Hum Mutat. 2006;27:44-54.
8. Murray PJ. NOD proteins: an intracellular pathogen-recognition system or signal transduction modifiers? Curr Opin Immunol. 2005;17:352-358.
9. Kobayashi KS, Chamaillard M, Ogura Y. Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract. Science. 2005;307:731-734.
10. Maeda S, Hsu LC, Liu H, et al. Nod2 mutation in Crohn's disease potentiates NF-kappaB activity and IL-1beta processing. Science. 2005;307:734-738.
11. Watanabe T, Kitani A, Murray PJ, et al. NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses. Nat Immunol. 2004;5:800-808.
12. Li J, Moran T, Swanson E, et al. Regulation of IL-8 and IL-1beta expression in Crohn's disease associated NOD2/CARD15 mutations. Hum Mol Genet. 2004;13:1715-1725.
13. Traub S, Kubasch N, Morath S, et al. Structural requirements of synthetic muropeptides to synergize with lipopolysaccharide in cytokine induction. J Biol Chem. 2004;279:8694-8700.
14. Franchimont D, Vermeire S, El Housni H, et al. Deficient host-bacteria interactions in inflammatory bowel disease? The toll-like receptor (TLR)-4 Asp299gly polymorphism is associated with Crohn's disease and ulcerative colitis. Gut. 2004;53:987-992.
15. Mc Govern DP, Hysi P, Ahmad T, et al. Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease. Hum Mol Genet. 2005;14:1245-1250.
16. van Heel DA, Mc Govern DP, Cardon LR, et al. Fine mapping of the IBD1 locus did not identify Crohn disease-associated NOD2 variants: implications for complex disease genetics. Am J Med Genet. 2002;111:253-259.
17. 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;122:867-874.
18. Inohara N, Ogura Y, Fontalba A, et al. Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease. J Biol Chem. 2003;278:5509-5512.
19. Barnich N, Aguirre JE, Reinecker HC, et al. Membrane recruitment of NOD2 in intestinal epithelial cells is essential for nuclear factor-{kappa}B activation in muramyl dipeptide recognition. J Cell Biol. 2005;170:21-26.
20. Tanabe T, Chamaillard M, Ogura Y, et al. Regulatory regions and critical residues of NOD2 involved in muramyl dipeptide recognition. EMBO J. 2004;23:1587-1597.
21. Bonen DK, Ogura Y, Nicolae DL, et al. Crohn's disease-associated NOD2 variants share a signaling defect in response to lipopolysaccharide and peptidoglycan. Gastroenterology. 2003;124:140-146.
22. Chamaillard M, Philpott D, Girardin SE, et al. Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci U S A. 2003;100:3455-3460.
23. Ogura Y, Saab L, Chen FF, et al. Genetic variation and activity of mouse Nod2, a susceptibility gene for Crohn's disease. Genomics. 2003;81:369-377.
24. Korzenik JR, Dieckgraefe BK, Valentine JF, et al. Sargramostim for active Crohn's disease. N Engl J Med. 2005;352:2193-2201.
25. Wirtz S, Neurath MF. Gene transfer approaches for the treatment of inflammatory bowel disease. Gene Ther. 2003;10:854-860.