Genetics and innate and adaptive immunity in IBD

Nestle Nutrition Institute Workshop Series

Volumn 79, Issue , 2014, Pages 41-55

  Zanello, Galliano ^a   Kevans, David ^a   Goethel, Ashleigh ^a   Silverberg, Mark ^a   Tyler, Andrea ^a   Croitoru, Kenneth ^a  

^a MOUNT SINAI HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

BACTERIA (MICROORGANISMS);

ADAPTIVE IMMUNITY; ANIMAL; DISEASE MODEL; GENETIC PREDISPOSITION; GENETICS; HUMAN; IMMUNOLOGY; INFLAMMATORY BOWEL DISEASE; INNATE IMMUNITY; INTESTINE; PATHOLOGY; T LYMPHOCYTE;

ADAPTIVE IMMUNITY; ANIMALS; DISEASE MODELS, ANIMAL; GENETIC PREDISPOSITION TO DISEASE; HUMANS; IMMUNITY, INNATE; INFLAMMATORY BOWEL DISEASES; INTESTINES; T-LYMPHOCYTES;

EID: 84929508899     PISSN: 16642147     EISSN: 16642155     Source Type: Book Series    
DOI: 10.1159/000360676     Document Type: Conference Paper

References (70)

1. Orholm M, Munkholm P, Langholz E, et al. Familial occurrence of inflammatory bowel disease. N Engl J Med 1991; 324: 84-88
2. Fielding JF. The relative risk of inflammatory bowel disease among parents and siblings of Crohn's disease patients. J Clin Gastroenterol 1986; 8: 655-657
3. Probert CS, Jayanthi V, Hughes AO, et al. Prevalence and family risk of ulcerative colitis and Crohn's disease: an epidemiological study among Europeans and south Asians in Leicestershire. Gut 1993; 34: 1547-1551
4. Halfvarson J. Genetics in twins with Crohn's disease: less pronounced than previously believed? Inflamm Bowel Dis 2011; 17: 6-12
5. Tysk C, Lindberg E, Jarnerot G, Floderus-Myrhed B. Ulcerative colitis and Crohn's disease in an unselected population of monozygotic and dizygotic twins. A study of heritability and the influence of smoking. Gut 1988; 29: 990-996
6. Brant SR. Update on the heritability of inflammatory bowel disease: the importance of twin studies. Inflamm Bowel Dis 2011; 17: 1-5
7. Lander ES, Linton LM, Birren B, et al. Initial sequencing and analysis of the human genome. Nature 2001; 409: 860-921
8. Venter JC, Adams MD, Myers EW, et al. The sequence of the human genome. Science 2001; 291: 1304-1351
9. International HapMap Consortium: A haplotype map of the human genome. Nature 2005; 437: 1299-1320
10. 1000 Genomes Project Consortium, Abecasis GR, Altshuler D, et al. A map of human genome variation from population-scale sequencing. Nature 2010; 467: 1061-1073
11. Li G, Gelernter J, Kranzler HR, Zhao H. M(3): an improved SNP calling algorithm for Illumina BeadArray data. Bioinformatics 2012; 28: 358-365
12. Hartwell LH, Hood L, Goldberg ML, et al. Genetics: From Genes to Genomes, ed 2. New York, McGraw-Hill, 2004
13. Girirajan S, Campbell CD, Eichler EE. Human copy number variation and complex genetic disease. Annu Rev Genet 2011; 45: 203-226
14. Lewis CM. Genetic association studies: design, analysis and interpretation. Brief Bioinform 2002; 3: 146-153
15. Stranger BE, Stahl EA, Raj T. Progress and promise of genome-wide association studies for human complex trait genetics. Genetics 2011; 187: 367-383
16. 1000 Genomes Project Consortium, Abecasis GR, Auton A, et al. An integrated map of genetic variation from 1, 092 human genomes. Nature 2012; 491: 56-65
17. Stokkers PC, Reitsma PH, Tytgat GN, van Deventer SJ. HLA-DR and-DQ phenotypes in inflammatory bowel disease: a meta-Analysis. Gut 1999; 45: 395-401
18. 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: 821-823
19. Ohmen JD, Yang HY, Yamamoto KK, et al. Susceptibility locus for inflammatory bowel disease on chromosome 16 has a role in Crohn's disease, but not in ulcerative colitis. Hum Mol Genet 1996; 5: 1679-1683
20. 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
21. 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
22. Yamazaki K, McGovern D, Ragoussis J, et al. Single nucleotide polymorphisms in TNFSF15 confer susceptibility to Crohn's disease. Hum Mol Genet 2005; 14: 3499-3506
23. Duerr RH, Taylor KD, Brant SR, et al. A genome-wide association study identifies IL23R as an inflammatory bowel disease gene. Science 2006; 314: 1461-1463
24. Rioux JD, Xavier RJ, Taylor KD, et al. Genome-wide association study identifies new susceptibility loci for Crohn disease and implicates autophagy in disease pathogenesis. Nat Genet 2007; 39: 596-604
25. Parkes M, Barrett JC, Prescott NJ, et al. Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet 2007; 39: 830-832
26. Franke A, McGovern DP, Barrett JC, et al. Genome-wide meta-Analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 2010; 42: 1118-1125
27. Anderson CA, Boucher G, Lees CW, et al. Meta-Analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47. Nat Genet 2011; 43: 246-252
28. Jostins L, Ripke S, Weersma RK, et al. Hostmicrobe interactions have shaped the genetic architecture of inflammatory bowel disease. Nature 2012; 491: 119-124
29. Glocker EO, Kotlarz D, Boztug K, et al. Inflammatory bowel disease and mutations affecting the interleukin-10 receptor. N Engl J Med 2009; 361: 2033-2045
30. Wellcome Trust Case Control Consortium: Genome-wide association study of 14, 000 cases of seven common diseases and 3, 000 shared controls. Nature 2007; 447: 661-678
31. Cho JH, Brant SR. Recent insights into the genetics of inflammatory bowel disease. Gastroenterology 2011; 140: 1704-1712
32. Brant SR. Promises, delivery, and challenges of inflammatory bowel disease risk gene discovery. Clin Gastroenterol Hepatol 2013; 11: 22-26
33. Hepworth MR, Monticelli LA, Fung TC, et al. Innate lymphoid cells regulate CD4+ T-cell responses to intestinal commensal bacteria. Nature 2013; 498: 113-117
34. Brown EM, Sadarangani M, Finlay BB. The role of the immune system in governing hostmicrobe interactions in the intestine. Nat Immunol 2013; 14: 660-667
35. Cooney R, Baker J, Brain O, et al. NOD2 stimulation induces autophagy in dendritic cells influencing bacterial handling and antigen presentation. Nat Med 2010; 16: 90-97
36. Travassos LH, Carneiro LA, Ramjeet M, et al. Nod1 and Nod2 direct autophagy by recruiting ATG16L1 to the plasma membrane at the site of bacterial entry. Nat Immunol 2010; 11: 55-62
37. Walker JA, Barlow JL, McKenzie AN. Innate lymphoid cells-how did we miss them? Nat Rev Immunol 2013; 13: 75-87
38. Buonocore S, Ahern PP, Uhlig HH, et al. Innate lymphoid cells drive interleukin-23-dependent innate intestinal pathology. Nature 2010; 464: 1371-1375
39. Geremia A, Arancibia-Carcamo CV, Fleming MP, et al. IL-23-responsive innate lymphoid cells are increased in inflammatory bowel disease. J Exp Med 2011; 208: 1127-1133
40. Bernink JH, Peters CP, Munneke M, et al. Human type 1 innate lymphoid cells accumulate in inflamed mucosal tissues. Nat Immunol 2013; 14: 221-229
41. Powrie F, Leach MW, Mauze S, et al. Inhibition of Th1 responses prevents inflammatory bowel disease in SCID mice reconstituted with CD45RBhi CD4+ T cells. Immunity 1994; 1: 553-562
42. Bernardo D, Vallejo-Diez S, Mann ER, et al. IL-6 promotes immune responses in human ulcerative colitis and induces a skin-homing phenotype in the dendritic cells and T cells they stimulate. Eur J Immunol 2012; 42: 1337-1353
43. Di Sabatino A, Biancheri P, Rovedatti L, et al. New pathogenic paradigms in inflammatory bowel disease. Inflamm Bowel Dis 2012; 18: 368-371
44. Reinisch W, de Villiers W, Bene L, et al. Fontolizumab in moderate to severe Crohn's disease: a phase 2, randomized, double-blind, placebo-controlled, multiple-dose study. Inflamm Bowel Dis 2010; 16: 233-242
45. Leppkes M, Becker C, Ivanov II, et al. RORgamma-expressing Th17 cells induce murine chronic intestinal inflammation via redundant effects of IL-17A and IL-17F. Gastroenterology 2009; 136: 257-267
46. Ishigame H, Kakuta S, Nagai T, et al. Differential roles of interleukin-17A and-17F in host defense against mucoepithelial bacterial infection and allergic responses. Immunity 2009; 30: 108-119
47. Yang XO, Chang SH, Park H, et al. Regulation of inflammatory responses by IL-17F. J Exp Med 2008; 205: 1063-1075
48. Hueber W, Sands BE, Lewitzky S, et al. Secukinumab, a human anti-IL-17A monoclonal antibody, for moderate to severe Crohn's disease: unexpected results of a randomised, double-blind placebo-controlled trial. Gut 2012; 61: 1693-1700
49. Sarra M, Pallone F, Macdonald TT, Monteleone G. IL-23/IL-17 axis in IBD. Inflamm Bowel Dis 2010; 16: 1808-1813
50. Sonnenberg GF, Fouser LA, Artis D. Border patrol: regulation of immunity, inflammation and tissue homeostasis at barrier surfaces by IL-22. Nat Immunol 2011; 12: 383-390
51. Schmechel S, Konrad A, Diegelmann J, et al. Linking genetic susceptibility to Crohn's disease with Th17 cell function: IL-22 serum levels are increased in Crohn's disease and correlate with disease activity and IL23R genotype status. Inflamm Bowel Dis 2008; 14: 204-212
52. Broadhurst MJ, Leung JM, Kashyap V, et al. IL-22+ CD4+ T cells are associated with therapeutic trichuris trichiura infection in an ulcerative colitis patient. Sci Transl Med 2010; 2: 60ra88
53. Brunkow ME, Jeffery EW, Hjerrild KA, et al. Disruption of a new forkhead/winged-helix protein, scurfin, results in the fatal lymphoproliferative disorder of the scurfy mouse. Nat Genet 2001; 27: 68-73
54. Lahl K, Loddenkemper C, Drouin C. Selective depletion of Foxp3+ regulatory T cells induces a scurfy-like disease. J Exp Med 2007; 204: 57-63
55. Mayne CG, Williams CB. Induced and natural regulatory T cells in the development of inflammatory bowel disease. Inflamm Bowel Dis 2013; 19: 1772-1788
56. Josefowicz SZ, Lu LF, Rudensky AY. Regulatory T cells: mechanisms of differentiation and function. Annu Rev Immunol 2012; 30: 531-564
57. Maul J, Loddenkemper C, Mundt P, et al. Peripheral and intestinal regulatory CD4+CD25(high) T cells in inflammatory bowel disease. Gastroenterology 2005; 128: 1868-1878
58. Fantini MC, Rizzo A, Fina D, et al. Smad7 controls resistance of colitogenic T cells to regulatory T cell-mediated suppression. Gastroenterology 2009; 136: 1308-1316 e1-e3
59. Monteleone I, Monteleone G, Fina D, et al. A functional role of flip in conferring resistance of Crohn's disease lamina propria lymphocytes to FAS-mediated apoptosis. Gastroenterology 2006; 130: 389-397
60. Rahman MK, Midtling EH, Svingen PA, et al. The pathogen recognition receptor NOD2 regulates human FOXP3+ T cell survival. J Immunol 2010; 184: 7247-7256
61. Xu L, Kitani A, Fuss I, Strober W. Cutting edge: regulatory T cells induce CD4+CD25-Foxp3-T cells or are self-induced to become Th17 cells in the absence of exogenous TGFbeta. J Immunol 2007; 178: 6725-6729
62. Murai M, Turovskaya O, Kim G, et al. Interleukin 10 acts on regulatory T cells to maintain expression of the transcription factor Foxp3 and suppressive function in mice with colitis. Nat Immunol 2009; 10: 1178-1184
63. Hooper LV, Bry L, Falk PG, Gordon JI. Hostmicrobial symbiosis in the mammalian intestine: exploring an internal ecosystem. Bioessays 1998; 20: 336-343
64. Macpherson AJ, Harris NL. Interactions between commensal intestinal bacteria and the immune system. Nat Rev Immunol 2004; 4: 478-485
65. Ivanov II, Atarashi K, Manel N, et al. Induction of intestinal Th17 cells by segmented filamentous bacteria. Cell 2009; 139: 485-498
66. Mazmanian SK, Round JL, Kasper DL. A microbial symbiosis factor prevents intestinal inflammatory disease. Nature 2008; 453: 620-625
67. Atarashi K, Tanoue T, Oshima K, et al. Treg induction by a rationally selected mixture of Clostridia strains from the human microbiota. Nature 2013; 500: 232-236
68. Zhou P, Borojevic R, Streutker C, et al. Expression of dual TCR on DO11.10 T cells allows for ovalbumin-induced oral tolerance to prevent T cell-mediated colitis directed against unrelated enteric bacterial antigens. J Immunol 2004; 172: 1515-1523
69. Forster K, Goethel A, Chan CW, et al. An oral CD3-specific antibody suppresses T-cellinduced colitis and alters cytokine responses to T-cell activation in mice. Gastroenterology 2012; 143: 1298-1307
70. Desreumaux P, Foussat A, Allez M, et al. Safety and efficacy of antigen-specific regulatory T-cell therapy for patients with refractory Crohn's disease. Gastroenterology 2012; 143: 1207-1217 e1-e2