Genetic susceptibility to autoimmune liver disease

World Journal of Hepatology

Volumn 3, Issue 1, 2011, Pages 1-7

  Mattner, Jochen ^a,b  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b CINCINNATI CHILDREN'S HOSPITAL MEDICAL CENTER   (United States)

Author keywords

Cytotoxic T lymphocyte antigen 4; Diabetes; Natural killer T cells; Non obese diabetic congenic mice; Novosphingobium; Primary biliary cirrhosis; Susceptibility loci

Indexed keywords

EID: 84864062187     PISSN: None     EISSN: 19485182     Source Type: Journal    
DOI: 10.4254/wjh.v3.i1.1     Document Type: Editorial

References (66)

1. Gao B, Jeong WI, Tian Z. Liver: An organ with predominant innate immunity. Hepatology 2008; 47: 729-736
2. Seki S, Habu Y, Kawamura T, Takeda K, Dobashi H, Ohkawa T, Hiraide H. The liver as a crucial organ in the first line of host defense: the roles of Kupffer cells, natural killer (NK) cells and NK1. 1 Ag+ T cells in T helper 1 immune responses. Immunol Rev 2000; 174: 35-46
3. Benseler V, McCaughan GW, Schlitt HJ, Bishop GA, Bowen DG, Bertolino P. The liver: a special case in transplantation tolerance. Semin Liver Dis 2007; 27: 194-213
4. Selmi C, Mackay IR, Gershwin ME. The immunological milieu of the liver. Semin Liver Dis 2007; 27: 129-139
5. Malnick S, Melzer E, Sokolowski N, Basevitz A. The involvement of the liver in systemic diseases. J Clin Gastroenterol 2008; 42: 69-80
6. Feld JJ, Heathcote EJ. Epidemiology of autoimmune liver disease. J Gastroenterol Hepatol 2003; 18: 1118-1128
7. Donaldson PT, Norris S. Immunogenetics in PSC. Best Pract Res Clin Gastroenterol 2001; 15: 611-627
8. Djilali-Saiah I, Ouellette P, Caillat-Zucman S, Debray D, Kohn JI, Alvarez F. CTLA-4/CD 28 region polymorphisms in children from families with autoimmune hepatitis. Hum Immunol 2001; 62: 1356-1362
9. Agarwal K, Jones DE, Daly AK, James OF, Vaidya B, Pearce S, Bassendine MF. CTLA- 4 gene polymorphism confers susceptibility to primary biliary cirrhosis. J Hepatol 2000; 32: 538-541
10. Aadland E, Schrumpf E, Fausa O, Elgjo K, Heilo A, Aakhus T, Gjone E. Primary sclerosing cholangitis: a long-term followup study. Scand J Gastroenterol 1987; 22: 655-664
11. Blumberg RS. Inflammation in the intestinal tract: pathogenesis and treatment. Dig Dis 2009; 27: 455-464
12. Selmi C, Balkwill DL, Invernizzi P, Ansari AA, Coppel RL, Podda M, Leung PS, Kenny TP, Van De Water J, Nantz MH, Kurth MJ, Gershwin ME. Patients with primary biliary cirrhosis react against a ubiquitous xenobiotic-metabolizing bacterium. Hepatology 2003; 38: 1250-1257
13. Kaplan MM. Novosphingobium aromaticivorans: a potential initiator of primary biliary cirrhosis. Am J Gastroenterol 2004; 99: 2147-2149
14. Padgett KA, Selmi C, Kenny TP, Leung PS, Balkwill DL, Ansari AA, Coppel RL, Gershwin ME. Phylogenetic and immunological definition of four lipoylated proteins from Novosphingobium aromaticivorans, implications for primary biliary cirrhosis. J Autoimmun 2005; 24: 209-219
15. Mattner J, Savage PB, Leung P, Oertelt SS, Wang V, Trivedi O, Scanlon ST, Pendem K, Teyton L, Hart J, Ridgway WM, Wicker LS, Gershwin ME, Bendelac A. Liver autoimmunity triggered by microbial activation of natural killer T cells. Cell Host Microbe 2008; 3: 304-315
16. Kaplan MM, Gershwin ME. Primary biliary cirrhosis. N Engl J Med 2005; 353: 1261-1273
17. Invernizzi P, Lleo A, Podda M. Interpreting serological tests in diagnosing autoimmune liver diseases. Semin Liver Dis 2007; 27: 161-172
18. Cavicchioli R, Fegatella F, Ostrowski M, Eguchi M, Gottschal J. Sphingomonads from marine environments. J Ind Microbiol Biotechnol 1999; 23: 268-272
19. Brodie EL, DeSantis TZ, Parker JP, Zubietta IX, Piceno YM, Andersen GL. Urban aerosols harbor diverse and dynamic bacterial populations. Proc Natl Acad Sci USA 2007; 104: 299-304
20. Mattner J, Debord KL, Ismail N, Goff RD, Cantu C 3rd, Zhou D, Saint-Mezard P, Wang V, Gao Y, Yin N, Hoebe K, Schneewind O, Walker D, Beutler B, Teyton L, Savage PB, Bendelac A. Exogenous and endogenous glycolipid antigens activate NKT cells during microbial infections. Nature 2005; 434: 525-529
21. Kawahara K, Moll H, Knirel YA, Seydel U, Zähringer U. Structural analysis of two glycosphingolipids from the lipopolysaccharide- lacking bacterium Sphingomonas capsulata. Eur J Biochem 2000; 267: 1837-1846
22. Kosako Y, Yabuuchi E, Naka T, Fujiwara N, Kobayashi K. Proposal of Sphingomonadaceae fam. nov., consisting of Sphingomonas Yabuuchi et al. 1990, Erythrobacter Shiba and Shimidu 1982, Erythromicrobium Yurkov et al. 1994, Porphyrobacter Fuerst et al. 1993, Zymomonas Kluyver and van Niel 1936, and Sandaracinobacter Yurkov et al. 1997, with the type genus Sphingomonas Yabuuchi et al. 1990. Microbiol Immunol 2000; 44: 563-575
23. Kinjo Y, Wu D, Kim G, Xing GW, Poles MA, Ho DD, Tsuji M, Kawahara K, Wong CH, Kronenberg M. Recognition of bacterial glycosphingolipids by natural killer T cells. Nature 2005; 434: 520-525
24. Kita H, Naidenko OV, Kronenberg M, Ansari AA, Rogers P, He XS, Koning F, Mikayama T, Van De Water J, Coppel RL, Kaplan M, Gershwin ME. Quantitation and phenotypic analysis of natural killer T cells in primary biliary cirrhosis using a human CD1d tetramer. Gastroenterology 2002; 123: 1031-1043
25. Harada K, Isse K, Tsuneyama K, Ohta H, Nakanuma Y. Accumulating CD57 + CD3 + natural killer T cells are related to intrahepatic bile duct lesions in primary biliary cirrhosis. Liver Int 2003; 23: 94-100
26. Tsuneyama K, Yasoshima M, Harada K, Hiramatsu K, Gershwin ME, Nakanuma Y. Increased CD1d expression on small bile duct epithelium and epithelioid granuloma in livers in primary biliary cirrhosis. Hepatology 1998; 28: 620-623
27. Maier LM, Wicker LS. Genetic susceptibility to type 1 diabetes. Curr Opin Immunol 2005; 17: 601-608
28. Maier LM, Smyth DJ, Vella A, Payne F, Cooper JD, Pask R, Lowe C, Hulme J, Smink LJ, Fraser H, Moule C, Hunter KM, Chamberlain G, Walker N, Nutland S, Undlien DE, Rønningen KS, Guja C, Ionescu-Tîrgoviste C, Savage DA, Strachan DP, Peterson LB, Todd JA, Wicker LS, Twells RC. Construction and analysis of tag single nucleotide polymorphism maps for six human-mouse orthologous candidate genes in type 1 diabetes. BMC Genet 2005; 6: 9
29. Koarada S, Wu Y, Fertig N, Sass DA, Nalesnik M, Todd JA, Lyons PA, Fenyk-Melody J, Rainbow DB, Wicker LS, Peterson LB, Ridgway WM. Genetic control of autoimmunity: protection from diabetes, but spontaneous autoimmune biliary disease in a nonobese diabetic congenic strain. J Immunol 2004; 173: 2315-2323
30. Irie J, Wu Y, Wicker LS, Rainbow D, Nalesnik MA, Hirsch R, Peterson LB, Leung PS, Cheng C, Mackay IR, Gershwin ME, Ridgway WM. NOD. c3c4 congenic mice develop autoimmune biliary disease that serologically and pathogenetically models human primary biliary cirrhosis. J Exp Med 2006; 203: 1209-1219
31. Podolin PL, Denny P, Armitage N, Lord CJ, Hill NJ, Levy ER, Peterson LB, Todd JA, Wicker LS, Lyons PA. Localization of two insulin-dependent diabetes (Idd) genes to the Idd10 region on mouse chromosome 3. Mamm Genome 1998; 9: 283-286
32. Wei B, Wingender G, Fujiwara D, Chen DY, McPherson M, Brewer S, Borneman J, Kronenberg M, Braun J. Commensal microbiota and CD8+ T cells shape the formation of invariant NKT cells. J Immunol 2010; 184: 1218-1226
33. Jones DE, Donaldson PT. Genetic factors in the pathogenesis of primary biliary cirrhosis. Clin Liver Dis 2003; 7: 841-864
34. Juran BD, Lazaridis KN. Genetics and genomics of primary biliary cirrhosis. Clin Liver Dis 2008; 12: 349-365; ix
35. Selmi C, Invernizzi P, Zuin M, Podda M, Gershwin ME. Genetics and geoepidemiology of primary biliary cirrhosis: following the footprints to disease etiology. Semin Liver Dis 2005; 25: 265-280
36. Invernizzi P, Gershwin ME. The genetic basis of primary biliary cirrhosis: premises, not promises. Gastroenterology 2008; 135: 1044-1047
37. Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, Gu X, Walker EJ, Jing K, Juran BD, Mason AL, Myers RP, Peltekian KM, Ghent CN, Coltescu C, Atkinson EJ, Heathcote EJ, Lazaridis KN, Amos CI, Siminovitch KA. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 2009; 360: 2544-2555
38. Karlsen TH, Schrumpf E, Boberg KM. Genetic epidemiology of primary sclerosing cholangitis. World J Gastroenterol 2007; 13: 5421-5431
39. Aron JH, Bowlus CL. The immunobiology of primary sclerosing cholangitis. Semin Immunopathol 2009; 31: 383-397
40. Vergani D, Mieli-Vergani G. Aetiopathogenesis of autoimmune hepatitis. World J Gastroenterol 2008; 14: 3306-3312
41. Boberg KM. Prevalence and epidemiology of autoimmune hepatitis. Clin Liver Dis 2002; 6: 635-647
42. Filipe-Santos O, Bustamante J, Chapgier A, Vogt G, de Beaucoudrey L, Feinberg J, Jouanguy E, Boisson-Dupuis S, Fieschi C, Picard C, Casanova JL. Inborn errors of IL-12/23- and IFN-gamma-mediated immunity: molecular, cellular, and clinical features. Semin Immunol 2006; 18: 347-361
43. Ueda H, Howson JM, Esposito L, Heward J, Snook H, Chamberlain G, Rainbow DB, Hunter KM, Smith AN, Di Genova G, Herr MH, Dahlman I, Payne F, Smyth D, Lowe C, Twells RC, Howlett S, Healy B, Nutland S, Rance HE, Everett V, Smink LJ, Lam AC, Cordell HJ, Walker NM, Bordin C, Hulme J, Motzo C, Cucca F, Hess JF, Metzker ML, Rogers J, Gregory S, Allahabadia A, Nithiyananthan R, Tuomilehto-Wolf E, Tuomilehto J, Bingley P, Gillespie KM, Undlien DE, Rønningen KS, Guja C, Ionescu-Tîrgoviste C, Savage DA, Maxwell AP, Carson DJ, Patterson CC, Franklyn JA, Clayton DG, Peterson LB, Wicker LS, Todd JA, Gough SC. Association of the T-cell regulatory gene CTLA4 with susceptibility to autoimmune disease. Nature 2003; 423: 506- 511
44. Fernández-Mestre M, Sánchez K, Balbás O, Gendzekhzadze K, Ogando V, Cabrera M, Layrisse Z. Influence of CTLA-4 gene polymorphism in autoimmune and infectious diseases. Hum Immunol 2009; 70: 532-535
45. Taylor MD, Harris A, Babayan SA, Bain O, Culshaw A, Allen JE, Maizels RM. CTLA- 4 and CD4+ CD25+ regulatory T cells inhibit protective immunity to filarial parasites in vivo. J Immunol 2007; 179: 4626-4634
46. Martins GA, Tadokoro CE, Silva RB, Silva JS, Rizzo LV. CTLA- 4 blockage increases resistance to infection with the intracellular protozoan Trypanosoma cruzi. J Immunol 2004; 172: 4893-4901
47. Mohammad Alizadeh AH, Hajilooi M, Ranjbar M, Fallahian F, Mousavi SM. Cytotoxic T-lymphocyte antigen 4 gene polymorphisms and susceptibility to chronic hepatitis B. World J Gastroenterol 2006; 12: 630-635
48. Su TH, Chang TY, Lee YJ, Chen CK, Liu HF, Chu CC, Lin M, Wang PT, Huang WC, Chen TC, Yang YC. CTLA- 4 gene and susceptibility to human papillomavirus-16-associated cervical squamous cell carcinoma in Taiwanese women. Carcinogenesis 2007; 28: 1237-1240
49. Zaunders JJ, Ip S, Munier ML, Kaufmann DE, Suzuki K, Brereton C, Sasson SC, Seddiki N, Koelsch K, Landay A, Grey P, Finlayson R, Kaldor J, Rosenberg ES, Walker BD, Fazekas de St Groth B, Cooper DA, Kelleher AD. Infection of CD127+ (interleukin- 7 receptor+) CD4+ cells and overexpression of CTLA- 4 are linked to loss of anti gen-specific CD4 T cells during primary human immunodeficiency virus type 1 infection. J Virol 2006; 80: 10162- 10172
50. Riley JL, Schlienger K, Blair PJ, Carreno B, Craighead N, Kim D, Carroll RG, June CH. Modulation of susceptibility to HIV- 1 infection by the cytotoxic T lymphocyte antigen 4 costimulatory molecule. J Exp Med 2000; 191: 1987-1997
51. Carmo AM, Vicentini MA, Dias AT, Alves LL, Alves CC, Brandi JS, De Paula ML, Fernandes A, Barsante MM, Souza MA, Teixeira HC, Negrão-Corrêa D, Ferreira AP. Increased susceptibility to Strongyloides venezuelensis in mice due to Mycobacterium bovis co-infection which modulates production of Th2 cytokines. Parasitology 2009; 136: 1357-1365
52. Fife BT, Bluestone JA. Control of peripheral T-cell tolerance and autoimmunity via the CTLA- 4 and PD-1 pathways. Immunol Rev 2008; 224: 166-182
53. Tivol EA, Borriello F, Schweitzer AN, Lynch WP, Bluestone JA, Sharpe AH. Loss of CTLA- 4 leads to massive lymphoproliferation and fatal multiorgan tissue destruction, revealing a critical negative regulatory role of CTLA-4. Immunity 1995; 3: 541-547
54. Waterhouse P, Penninger JM, Timms E, Wakeham A, Shahinian A, Lee KP, Thompson CB, Griesser H, Mak TW. Lymphoproliferative disorders with early lethality in mice deficient in Ctla-4. Science 1995; 270: 985-988
55. Fan LY. Cytotoxic T lymphocyte associated antigen-4 gene polymorphisms confer susceptibility to primary biliary cirrhosis and autoimmune hepatitis in Chinese population. World J Gastroenterol 2004; 10: 3056-3059
56. Bittencourt PL, Palácios SA, Farias AQ, Abrantes-Lemos CP, Cançado EL, Carrilho FJ, Laudanna AA, Kalil J, Goldberg AC. Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis. J Gastroenterol Hepatol 2003; 18: 1061-1066
57. Anjos S, Nguyen A, Ounissi-Benkalha H, Tessier MC, Polychronakos C. A common autoimmunity predisposing signal peptide variant of the cytotoxic T-lymphocyte antigen 4 results in inefficient glycosylation of the susceptibility allele. J Biol Chem 2002; 277: 46478-46486
58. Mäurer M, Loserth S, Kolb-Mäurer A, Ponath A, Wiese S, Kruse N, Rieckmann P. A polymorphism in the human cytotoxic T-lymphocyte antigen 4 ( CTLA4) gene (exon 1 +49) alters T-cell activation. Immunogenetics 2002; 54: 1-8
59. Oaks MK, Hallett KM, Penwell RT, Stauber EC, Warren SJ, Tector AJ. A native soluble form of CTLA-4. Cell Immunol 2000; 201: 144-153
60. Read S, Malmström V, Powrie F. Cytotoxic T lymphocyteassociated antigen 4 plays an essential role in the function of CD25(+)CD4(+) regulatory cells that control intestinal inflammation. J Exp Med 2000; 192: 295-302
61. Takahashi T, Tagami T, Yamazaki S, Uede T, Shimizu J, Sakaguchi N, Mak TW, Sakaguchi S. Immunologic selftolerance maintained by CD25(+)CD4(+) regulatory T cells constitutively expressing cytotoxic T lymphocyte-associated antigen 4. J Exp Med 2000; 192: 303-310
62. Wing K, Onishi Y, Prieto-Martin P, Yamaguchi T, Miyara M, Fehervari Z, Nomura T, Sakaguchi S. CTLA- 4 control over Foxp3+ regulatory T cell function. Science 2008; 322: 271-275
63. Ise W, Kohyama M, Nutsch KM, Lee HM, Suri A, Unanue ER, Murphy TL, Murphy KM. CTLA- 4 suppresses the pathogenicity of self antigen-specific T cells by cell-intrinsic and cell-extrinsic mechanisms. Nat Immunol 2010; 11: 129-135
64. Jago CB, Yates J, Câmara NO, Lechler RI, Lombardi G. Differential expression of CTLA- 4 among T cell subsets. Clin Exp Immunol 2004; 136: 463-471
65. Fallarino F, Grohmann U, Hwang KW, Orabona C, Vacca C, Bianchi R, Belladonna ML, Fioretti MC, Alegre ML, Puccetti P. Modulation of tryptophan catabolism by regulatory T cells. Nat Immunol 2003; 4: 1206-1212
66. Dejean AS, Beisner DR, Ch'en IL, Kerdiles YM, Babour A, Arden KC, Castrillon DH, DePinho RA, Hedrick SM. Transcription factor Foxo3 controls the magnitude of T cell immune responses by modulating the function of dendritic cells. Nat Immunol 2009; 10: 504-513