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References

  • 1
    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: 8213.
  • 2
    Cho JH, Nicolae DL, Gold LH, et al. Identification of novel susceptibility loci for inflammatory bowel disease on chromosomes 1p, 3q, and 4q: evidence for epitasis between 1p and IBD1. Proc Natl Acad Sci U S A 1998; 95: 75027.
  • 3
    Duerr RH, Barmada MM, Zhang L, Pfutzer R, Weeks DE. High-density genome scan in Crohn disease shows confirmed linkage to chromosome 14q11-12. Am J Hum Genet 2000; 66: 185762.
  • 4
    Hampe J, Schreiber S, Shaw SH, et al. A genomewide analysis provides evidence for novel linkages in inflammatory bowel disease in a large European cohort. Am J Hum Genet 1999; 64: 80816.
  • 5
    Ma Y, Ohmen JD, Li Z, Bentley LG. A genome-wide search identifies potential new susceptibility loci for Crohn’s disease. Inflamm Bowel Dis 1999; 5: 2718.
  • 6
    Williams CN, Kocher K, Lander ES, et al. Using a genome-wide scan and meta-analysis to identify a novel IBD locus and confirm previously identified IBD loci. Inflamm Bowel Dis 2002; 8: 37581.
  • 7
    Paavola-Sakki P, Ollikainen V, Helio T, et al. Genome-wide search in Finnish families with inflammatory bowel disease provides evidence for novel susceptibility loci. Eur J Hum Genet 2003; 11: 11220.
  • 8
    Vermeire S, Rutgeerts P, Van Steen K, et al. Genome wide scan in a Flemish inflammatory bowel disease population: support for the IBD4 locus, population heterogeneity, and epistasis. Gut 2004; 53: 9806.
  • 9
    Rioux JD, Silverberg MS, Daly MJ, et al. Genomewide search in Canadian families with inflammatory bowel disease reveals two novel susceptibility loci. Am J Hum Genet 2000; 66: 186370.
  • 10
    Satsangi J, Parkes M, Louis E, et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet 1996; 14: 199202.
  • 11
    Rioux JD, Daly MJ, Silverberg MS, et al. Genetic variation in the 5q31 cytokine gene cluster confers susceptibility to Crohn disease. Nat Genet 2001; 29: 2238.
  • 12
    Barmada MM, Brant SR, Nicolae DLA, et al. Genome scan in 260 inflammatory bowel disease-affected relative pairs. Inflamm Bowel Dis 2004; 10: 1522.
  • 13
    Ogura Y, Bonen DK, Inohara N, et al. A frameshift mutation in NOD2 associated with susceptibility to Crohn’s disease. Nature 2001; 411: 6036.
  • 14
    Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn’s disease. Nature 2001; 411: 599603.
  • 15
    Oostenbrug LE, Drenth JP, De Jong DJ, et al. Association between Toll-like receptor 4 and inflammatory bowel disease. Inflamm Bowel Dis 2005; 11: 56775.
  • 16
    Schwab M, Schaeffeler E, Marx C, et al. Association between the C3435T MDR1 gene polymorphism and susceptibility for ulcerative colitis. Gastroenterology 2003; 124: 2633.
  • 17
    McGovern 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: 124550.
  • 18
    De la Concha EG, Fernandez-Arquero M, Lopez-Nava G, et al. Susceptibility to severe ulcerative colitis is associated with polymorphism in the central MHC gene IKBL. Gastroenterology 2000; 119: 14915.
  • 19
    Stoll M, Corneliussen B, Costello CM, et al. Genetic variation in DLG5 is associated with inflammatory bowel disease. Nat Genet 2004; 36: 47680.
  • 20
    Peltekova VD, Wintle RF, Rubin LA, et al. Functional variants of OCTN cation transporter genes are associated with Crohn disease. Nat Genet 2004; 36: 4715.
  • 21
    Eckmann L, Karin M. NOD2 and Crohn’s disease: loss or gain of function? Immunity 2005; 22: 6617.
  • 22
    Ogura Y, Inohara N, Benito A, et al. Nod2, a Nod1/Apaf-1 family member that is restricted to monocytes and activates NF-kappaB. J Biol Chem 2001; 276: 48128.
  • 23
    Ogura Y, Lala S, Xin W, et al. Expression of NOD2 in Paneth cells: a possible link to Crohn’s ileitis. Gut 2003; 52: 15917.
  • 24
    Ahmad T, Armuzzi A, Bunce M, et al. The molecular classification of the clinical manifestations of Crohn’s disease. Gastroenterology 2002; 122: 85466.
  • 25
    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: 2393404.
    Direct Link:
  • 26
    Miceli-Richard C, Lesage S, Rybojad M, et al. CARD15 mutations in Blau syndrome. Nat Genet 2001; 29: 1920.
  • 27
    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: 7348.
  • 28
    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: 8008.
  • 29
    Kobayashi KS, Chamaillard M, Ogura Y, et al. Nod2-dependent regulation of innate and adaptive immunity in the intestinal tract. Science 2005; 307: 7314.
  • 30
    Wehkamp J, Salzman NH, Porter E, et al. Reduced Paneth cell alpha-defensins in ileal Crohn’s disease. Proc Natl Acad Sci U S A 2005; 102: 1812934.
  • 31
    Wehkamp J, Harder J, Weichenthal M, et al. NOD2 (CARD15) mutations in Crohn’s disease are associated with diminished mucosal alpha-defensin expression. Gut 2004; 53: 165864.
  • 32
    Chamaillard M, Hashimoto M, Horie Y, et al. An essential role for NOD1 in host recognition of bacterial peptidoglycan containing diaminopimelic acid. Nat Immunol 2003; 4: 7027.
  • 33
    Zouali H, Lesage S, Merlin F, et al. CARD4/NOD1 is not involved in inflammatory bowel disease. Gut 2003; 52: 714.
  • 34
    Cario E. Bacterial interactions with cells of the intestinal mucosa: Toll-like receptors and NOD2. Gut 2005; 54: 118293.
  • 35
    Hausmann M, Kiessling S, Mestermann S, et al. Toll-like receptors 2 and 4 are up-regulated during intestinal inflammation. Gastroenterology 2002; 122: 19872000.
  • 36
    Poltorak A, He X, Smirnova I, et al. Defective LPS signaling in C3H/HeJ and C57BL/10ScCr mice: mutations in Tlr4 gene. Science 1998; 282: 20858.
  • 37
    Chow JC, Young DW, Golenbock DT, Christ WJ, Gusovsky F. Toll-like receptor-4 mediates lipopolysaccharide-induced signal transduction. J Biol Chem 1999; 274: 1068992.
  • 38
    Arbour NC, Lorenz E, Schutte BC, et al. TLR4 mutations are associated with endotoxin hyporesponsiveness in humans. Nat Genet 2000; 25: 18791.
  • 39
    Gazouli M, Mantzaris G, Kotsinas A, et al. Association between polymorphisms in the Toll-like receptor 4, CD14, and CARD15/NOD2 and inflammatory bowel disease in the Greek population. World J Gastroenterol 2005; 11: 6815.
  • 40
    Ouburg S, Mallant-Hent R, Crusius JB, et al. The toll-like receptor 4 (TLR4) Asp299Gly polymorphism is associated with colonic localisation of Crohn’s disease without a major role for the Saccharomyces cerevisiae mannan-LBP-CD14-TLR4 pathway. Gut 2005; 54: 43940.
  • 41
    Franchimont D, Vermeire S, El HH, Pierik M, 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: 98792.
  • 42
    Török HP, Glas J, Tonenchi L, et al. Polymorphisms of the lipopolysaccharide–signaling complex in inflammatory bowel disease: association of a mutation in the Toll-like receptor 4 gene with ulcerative colitis. Clin Immunol 2004; 112: 8591.
  • 43
    Lakatos PL, Lakatos L, Szalay E, et al. Toll-like receptor 4 and NOD2/CARD15 mutations in Hungarian patients with Crohn’s disease: phenotype–genotype correlations. World J Gastroenterol 2005; 11: 148995.
  • 44
    Pierik M, Joossens S, Van Steen K., et al. Toll-like receptor-1, -2, and -6 polymorphisms influence disease extension in inflammatory bowel diseases. Inflamm Bowel Dis 2006; 12: 18.
  • 45
    Van Heel DA, Fisher SA, Kirby A, et al. Inflammatory bowel disease susceptibility loci defined by genome scan meta-analysis of 1952 affected relative pairs. Hum Mol Genet 2004; 13: 76370.
  • 46
    The MHC sequencing consortium. Complete sequence and gene map of a human major histocompatibility complex. Nature 1999; 401: 9213.
  • 47
    Jardetzky TS, Brown JH, Gorga JC, et al. Three-dimensional structure of a human class II histocompatibility molecule complexed with superantigen. Nature 1994; 368: 7118.
  • 48
    Yap LM, Ahmad T, Jewell DP. The contribution of HLA genes to IBD susceptibility and phenotype. Best Pract Res Clin Gastroenterol 2004; 18: 57796.
  • 49
    Stokkers PC, Reitsma PH, Tytgat GN, Van Deventer SJ. HLA-DR and -DQ phenotypes in inflammatory bowel disease: a meta-analysis. Gut 1999; 45: 395401.
  • 50
    Silverberg MS, Mirea L, Bull SB, et al. A population- and family-based study of Canadian families reveals association of HLA DRB1*0103 with colonic involvement in inflammatory bowel disease. Inflamm Bowel Dis 2003; 9: 19.
  • 51
    Myung SJ, Yang SK, Jung HY, et al. HLA-DRB1*1502 confers susceptibility to ulcerative colitis, but is negatively associated with its intractability: a Korean study. Int J Colorectal Dis 2002; 17: 2337.
  • 52
    Yoshitake S, Kimura A, Okada M, Yao T, Sasazuki T. HLA class II alleles in Japanese patients with inflammatory bowel disease. Tissue Antigens 1999; 533: 508.
  • 53
    Trachtenberg EA, Yang H, Hayes EHLA, et al. Class II haplotype associations with inflammatory bowel disease in Jewish(Ashkenazi) and non-Jewish caucasian populations. Hum Immunol 2000; 61: 32633.
  • 54
    Newman B, Silverberg MS, Gu X, et al. CARD15 and HLA DRB1 alleles influence susceptibility and disease localization in Crohn’s disease. Am J Gastroenterol 2004; 99: 30615.
    Direct Link:
  • 55
    Fernandez L, Mendoza JL, Martinez A, et al. IBD1 and IBD3 determine location of Crohn’s disease in the Spanish population. Inflamm Bowel Dis 2004; 10: 71522.
  • 56
    Neurath MF, Fuss I, Pasparakis M, et al. Predominant pathogenic role of tumor necrosis factor in experimental colitis in mice. Eur J Immunol 1997; 27: 174350.
  • 57
    Noguchi M, Hiwatashi N, Liu Z, et al. Secretion imbalance between tumour necrosis factor and its inhibitor in inflammatory bowel disease. Gut 1998; 43: 2039.
  • 58
    Van Dullemen HM, Van Deventer SJ, Hommes DW, et al. Treatment of Crohn’s disease with anti-tumor necrosis factor chimeric monoclonal antibody (cA2). Gastroenterology 1995; 109: 12935.
  • 59
    Targan SR, Hanauer SB, Van Deventer SJ, et al. A short-term study of chimeric monoclonal antibody cA2 to tumor necrosis factor alpha for Crohn’s disease. Crohn’s Disease cA2 Study Group. N Engl J Med 1997; 337: 102935.
  • 60
    O’Callaghan NJ, Adams KE, Van Heel DA, Cavanaugh JA. Association of TNF-alpha-857C with inflammatory bowel disease in the Australian population. Scand J Gastroenterol 2003; 38: 5334.
  • 61
    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: 10628.
  • 62
    Yamazaki K, McGovern D, Ragoussis J, et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn’s disease. Hum Mol Genet 2005; 14: 3499506.
  • 63
    Migone TS, Zhang J, Luo X, et al. TL1A is a TNF-like ligand for DR3 and TR6/DcR3 and functions as a T cell costimulator. Immunity 2002; 16: 47992.
  • 64
    Ahmad T, Neville M, Marshall SE, et al. Haplotype-specific linkage disequilibrium patterns define the genetic topography of the human MHC. Hum Mol Genet 2003; 12: 64756.
  • 65
    Newman B, Gu X, Wintle R, et al. A risk haplotype in the Solute Carrier Family 22A4/22A5 gene cluster influences phenotypic expression of Crohn’s disease. Gastroenterology 2005; 128: 2609.
  • 66
    Torok HP, Glas J, Tonenchi L, et al. Polymorphisms in the DLG5 and OCTN cation transporter genes in Crohn’s disease. Gut 2005; 54: 14217.
  • 67
    Armuzzi A, Ahmad T, Ling KL, et al. Genotype–phenotype analysis of the Crohn’s disease susceptibility haplotype on chromosome 5q31. Gut 2003; 52: 11339.
  • 68
    Vermeire S, Pierik M, Hlavaty T, et al. Association of organic cation transporter risk haplotype with perianal penetrating Crohn’s disease but not with susceptibility to IBD. Gastroenterology 2005; 129: 184553.
  • 69
    Noble CL, Nimmo ER, Drummond H, et al. The contribution of OCTN1/2 variants within the IBD5 locus to disease susceptibility and severity in Crohn’s disease. Gastroenterology 2005; 129: 185464.
  • 70
    Wakabayashi M, Ito T, Mitsushima M, et al. Interaction of lp-dlg/KIAA0583, a membrane-associated guanylate kinase family protein, with vinexin and beta-catenin at sites of cell–cell contact. J Biol Chem 2003; 278: 2170914.
  • 71
    Friedrichs F, Brescianini S, Annese V, et al. Evidence of transmission ratio distortion of DLG5 R30Q variant in general and implication of an association with Crohn disease in men. Hum Genet 2006; 119: 30511.
  • 72
    Yamazaki K, Takazoe M, Tanaka T, et al. Association analysis of SLC22A4, SLC22A5 and DLG5 in Japanese patients with Crohn disease. J Hum Genet 2004; 49: 6648.
  • 73
    Buning C, Geerdts L, Fiedler T, et al. DLG5 variants in inflammatory bowel disease. Am J Gastroenterol 2006; 101: 78692.
    Direct Link:
  • 74
    Noble CL, Nimmo ER, Drummond H, et al. DLG5 variants do not influence susceptibility to inflammatory bowel disease in the Scottish population. Gut 2005; 54: 141620.
  • 75
    Tremelling M, Waller S, Bredin F, et al. Genetic variants in TNF-alpha but not DLG5 are associated with inflammatory bowel disease in a large United Kingdom cohort. Inflamm Bowel Dis 2006; 12: 17884.
  • 76
    Ho GT, Moodie FM, Satsangi J. Multidrug resistance 1 gene (P-glycoprotein 170): an important determinant in gastrointestinal disease? Gut 2003; 52: 75966.
  • 77
    Panwala CM, Jones JC, Viney JL, et al. A novel model of inflammatory bowel disease: mice deficient for the multiple drug resistance gene, mdr1a, spontaneously develop colitis. J Immunol 1998; 161: 573344.
  • 78
    Ho GT, Nimmo ER, Tenesa A, et al. Allelic variations of the multidrug resistance gene determine susceptibility and disease behavior in ulcerative colitis. Gastroenterology 2005; 128: 28896.
  • 79
    Potocnik U, Ferkolj I, Glavac D, et al. Polymorphisms in multidrug resistance 1 (MDR1) gene are associated with refractory Crohn disease and ulcerative colitis. Genes Immun 2004; 5: 5309.
  • 80
    Brant SR, Panhuysen CI, Nicolae D, et al. MDR1 Ala893 polymorphism is associated with inflammatory bowel disease. Am J Hum Genet 2003; 73: 128292.
  • 81
    Croucher PJ, Mascheretti S, Foelsch UR, et al. Lack of association between the C3435T MDR1 gene polymorphism and inflammatory bowel disease in two independent Northern European populations. Gastroenterology 2003; 125: 191920.
  • 82
    Glas J, Torok HP, Schiemann U, et al. MDR1 gene polymorphism in ulcerative colitis. Gastroenterology 2004; 126: 367.
  • 83
    Oostenbrug LE, Dijkstra G, Nolte IM, et al. Absence of association between the Multidrug Resistance (MDR)1 gene and inflammatory bowel disease. Scand J Gastroenterol 2006; 41: 117482.
  • 84
    Cummings JR, Jewell DP. Clinical implications of inflammatory bowel disease genetics on phenotype. Inflamm Bowel Dis 2005; 11: 5661.
  • 85
    Reumaux D, Sendid B, Poulain D, Duthilleul P, Dewit O, Colombel JF. Serological markers in inflammatory bowel diseases. Best Pract Res Clin Gastroenterol 2003; 17: 1935.
  • 86
    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: 815.
  • 87
    Oostenbrug LE, Van Dullemen HM, Te Meerman GJ, et al. Clinical outcome of Crohn’s disease according to the Vienna classification: disease location is a useful predictor of disease course. Eur J Gastroenterol Hepatol 2006; 18: 25561.
  • 88
    Silverberg MS, Satsangi J, Ahmad T, et al. Toward an integrated clinical, molecular and serological classification of inflammatory bowel disease: Report of a Working Party of the 2005 Montreal World Congress of Gastroenterology. Can J Gastroenterol 2005; 19(Suppl. A): 536.
  • 89
    Sachar DB, Bodian CA, Goldstein ES, et al. Task Force on Clinical Phenotyping of the IOIBD. Is perianal Crohn’s disease associated with intestinal fistulization? Am J Gastroenterol 2005; 100: 15479.
    Direct Link: