Analysis of the NOD2/CARD15 gene in patients affected with the aseptic abscesses syndrome with or without inflammatory bowel disease

Digestive Diseases and Sciences

Volumn 53, Issue 2, 2008, Pages 490-499

  André, Marc François Jean ^a,b   Aumaître, Olivier ^b   Piette, Jean Charles ^c   Grateau, Gilles ^d,e   Cardoso, Marie Céleste ^f   Ouchchane, Lemlih ^f,g   Kémény, Jean Louis ^b   Dastugue, Bernard ^a,f,g   Delpech, Marc ^h,i   Creveaux, Isabelle ^a,f,g  

^a INSERM   (France)

^b SERVICE DE RHUMATOLOGIE   (France)

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^d HÔPITAL TENON   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^g UNIVERSITÉ CLERMONT AUVERGNE   (France)

^h université Paris Cité   (France)

ⁱ UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

Abscess; Aseptic; Association study; CARD15; Crohn disease; NOD2

Indexed keywords

CASPASE RECRUITMENT DOMAIN PROTEIN 15;

ADOLESCENT; ADULT; AGED; ARTICLE; BLAU SYNDROME; CLINICAL ARTICLE; CLINICAL TRIAL; CROHN DISEASE; DISEASE ASSOCIATION; ENTERITIS; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; MALE; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PREVALENCE; PRIORITY JOURNAL;

ABDOMEN; ABSCESS; ADULT; CROHN DISEASE; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MIDDLE AGED; NOD2 SIGNALING ADAPTOR PROTEIN; POLYMORPHISM, GENETIC; SYNDROME;

EID: 38649094931     PISSN: 01632116     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10620-007-9871-8     Document Type: Article

References (28)

1. André M, Aumaître O, Marcheix JC, Piette JC (1995) Aseptic systemic abscesses preceding diagnosis of Crohn's disease by three years. Dig Dis Sci 40:525-527
2. Andre MF, Piette JC, Kemeny JL, Ninet J, Jego P, Delevaux I, Wechsler B, Weiller PJ, Frances C, Bletry O, Wismans PJ, Rousset H, Colombel JF, Aumaitre O, and the French Study Group on Aseptic Abscesses (2007) Aseptic abscesses: a study of 30 patients with or without inflammatory bowel disease and review of the literature. Medicine 86:145-161
3. André M, Aumaître O, Papo T, Kemeny JL, Vital-Durand D, Rousset H, Ninet J, Pointud P, Charlotte F, Godeau B, Schmidt J, Marcheix JC, Piette JC (1998) Disseminated aseptic abscesses associated with Crohn's disease : a new entity? Dig Dis Sci 43:420-428
4. Fiocchi C (1998) Inflammatory bowel disease: etiology and pathogenesis. Gastroenterology 115:182-205
5. Hugot JP, Chamaillard M, Zouali H, Lesage S, Cezard JP, Belaiche J, Almer S, Tysk C, O'Morain CA, Gassull M, Binder V, Finkel Y, Cortot A, Modigliani R, Laurent-Puig P, Gower-Rousseau C, Macry J, Colombel JF, Sahbatou M, Thomas G (2001) Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature 411:599-603
6. Ogura Y, Bonen DK, Inohara N, Nicolae DL, Chen FF, Ramos R, Britton H, Moran T, Karaliuskas R, Duerr RH, Achkar JP, Brant SR, Bayless TM, Kirschner BS, Hanauer SB, Nunez G, Cho JH (2001) A frameshift mutation in NOD2 associated with susceptibility to Crohn's disease. Nature 411:603-606
7. Barnich N, Aguirre JE, Reinecker HC, Xavier R, Podolsky DK (2005) Membrane recruitment of NOD2 in intestinal epithelial cells is essential for nuclear factor-kB activation in muramyl dipeptide recognition. J Cell Biol 170:21-26
8. Inohara N, Ogura Y, Fontalba A, Gutierrez O, Pons F, Crespo J, Fukase K, Inamura S, Kusumoto S, Hashimoto M, Foster SJ, Moran AP, Fernandez-Luna JL, Nunez G (2003) Host recognition of bacterial muramyl dipeptide mediated through NOD2. Implications for Crohn's disease. J Biol Chem 278:5509-5512
9. Chamaillard M, Philpott D, Girardin SE, Zouali H, Lesage S, Chareyre F, Bui TH, Giovannini M, Zaehringer U, Penard-Lacronique V, Sansonetti PJ, Hugot JP, Thomas G (2003) Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Proc Natl Acad Sci USA 100:3455-3460
10. Watanabe T, Kitani A, Murray PJ, Strober W (2004) NOD2 is a negative regulator of Toll-like receptor 2-mediated T helper type 1 responses. Nat Immunol 5:800-808
11. Netea MG, Ferwerda G, de Jong DJ, Girardin SE, Kullberg BJ, van der Meer JW (2005) NOD2 3020insC mutation and the pathogenesis of Crohn's disease: impaired IL-1β production points to a loss-of-function phenotype. Neth J Med 63:305-308
12. Zelinkova Z, Stokkers P, Hommes DW (2005) NOD2 in Crohn's disease-loss or gain of function mutations? Neth J Med 63:286-287
13. Lesage S, Zouali H, Cezard JP, Colombel JF, Belaiche J, Almer S, Tysk C, O'Morain C, Gassull M, Binder V, Finkel Y, Modigliani R, Gower-Rousseau C, Macry J, Merlin F, Chamaillard M, Jannot AS, Thomas G, Hugot JP; EPWG-IBD Group; EPIMAD Group; GETAID Group (2002) CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Am J Hum Genet 70:845-857
14. Newman B, Silverberg MS, Gu X, Zhang Q, Lazaro A, Steinhart AH, Greenberg GR, Griffiths AM, McLeod RS, Cohen Z, Fernandez-Vina M, Amos CI, Siminovitch K (2004) CARD15 and HLA DRB1 alleles influence susceptibility and disease localization in Crohn's disease. Am J Gastroenterol 99:306-315
15. Medici V, Mascheretti S, Croucher PJ, Stoll M, Hampe J, Grebe J, Sturniolo GC, Solberg C, Jahnsen J, Moum B, Schreiber S, Vatn MH (2006) Extreme heterogeneity in CARD15 and DLG5 Crohn disease-associated polymorphisms between German and Norwegian populations. Eur J Hum Genet 14:459-468
16. Crane AM, Bradbury L, van Heel DA, McGovern DP, Brophy S, Rubin L, Siminovitch KA, Wordsworth BP, Calin A, Brown MA (2002) Role of NOD2 variants in spondylarthritis. Arthritis Rheum 46:1629-1633
17. King K, Sheikh MF, Cuthbert AP, Fisher SA, Onnie CM, Mirza MM, Pattni RC, Sanderson J, Forbes A, Mansfield J, Lewis CM, Roberts RG, Mathew CG (2006) Mutation, selection, and evolution of the Crohn disease susceptibility gene CARD15. Hum Mutat 27:44-54
18. Hugot JP, Zouali H, Lesage S (2003) Lessons to be learned from the NOD2 gene in Crohn's disease. Eur J Gastroenterol Hepatol 15:593-597
19. Callen JP (1998) Pyoderma gangrenosum. Lancet 351:581-585
20. Rosenstiel P, Huse K, Till A, Hampe J, Hellmig S, Sina C, Billmann S, von Kampen O, Waetzig GH, Platzer M, Seegert D, Schreiber S (2006) A short isoform of NOD2/CARD15, NOD2-S, is an endogenous inhibitor of NOD2/receptor-interacting protein kinase 2-induced signaling pathways. Proc Natl Acad Sci 103:3280-3285
21. Newman B, Rubin LA, Siminovitch KA (2003) NOD2/CARD15 gene mutation is not associated with susceptibility to Wegener's granulomatosis. J Rheumatol 30:305-307
22. Miceli-Richard C, Zouali H, Lesage S, Thomas G, Hugot JP, Said-Nahal R, Breban M (2002) CARD15/NOD2 analyses in spondylarthropathy. Arthritis Rheum 46:1405-1406
23. Rahman P, Bartlett S, Siannis F, Pellett FJ, Farewell VT, Peddle L, Schentag CT, Alderdice CA, Hamilton S, Khraishi M, Tobin Y, Hefferton D, Gladman DD (2003) CARD15: a pleiotropic autoimmune gene that confers susceptibility to psoriatic arthritis. Am J Hum Genet 73:677-681
24. Nair RP, Stuart P, Ogura Y, Inohara N, Chia NV, Young L, Henseler T, Jenisch S, Christophers E, Voorhees JJ, Nunez G, Elder JT (2001) Lack of association between NOD2 3020InsC frameshift mutation and psoriasis. J Invest Dermatol 117:1671-1672
25. Borgiani P, Vallo L, D'Apice MR, Giardina E, Pucci S, Capon F, Nistico S, Chimenti S, Pallone F, Novelli G (2002) Exclusion of CARD15/NOD2 as a candidate susceptibility gene to psoriasis in the Italian population. Eur J Dermatol 12:540-542
26. Ahmad T, Zhang L, Gogus F, Verity D, Wallace G, Madanat W, Fayyad F, James T, Neville M, Kanawati C, Fortune F, Celik A, Stanford M, Jewell DP, Marshall SE (2005) CARD15 polymorphisms in Behcet's disease. Scand J Rheumatol 34:233-237
27. Newman B, Cescon D, Domenchini A, Siminovitch KA (2004) CD2BP1 and CARD15 mutations are not associated with pyoderma gangrenosum in patients with inflammatory bowel disease. J Invest Dermatol 122:1054-1056
28. Wallach D (2000) Neutrophilic dermatoses : an overview. Clin Dermatol 18:229-231