Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving

Hepatology

Volumn 54, Issue 2, 2011, Pages 714-723

  Invernizzi, Pietro ^a,b  

^a HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HLA ANTIGEN;

ARTICLE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HEREDITY; HUMAN; PRIMARY BILIARY CIRRHOSIS; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM;

ANIMALS; GENETIC PREDISPOSITION TO DISEASE; HLA ANTIGENS; HUMANS; LIVER CIRRHOSIS, BILIARY;

EID: 79960736530     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.24414     Document Type: Article

References (84)

1. Invernizzi P, Selmi C, Gershwin ME. Update on primary biliary cirrhosis. Dig Liver Dis 2010; 42: 401-408.
2. Lindor KD, Gershwin ME, Poupon R, Kaplan M, Bergasa NV, Heathcote EJ, et al. Primary biliary cirrhosis. HEPATOLOGY 2009; 50: 291-308.
3. Gershwin ME, Mackay IR. The causes of primary biliary cirrhosis: Convenient and inconvenient truths. HEPATOLOGY 2008; 47: 737-745.
4. Invernizzi P, Selmi C, Mackay IR, Podda M, Gershwin ME. From bases to basis: linking genetics to causation in primary biliary cirrhosis. Clin Gastroenterol Hepatol 2005; 3: 401-410.
5. Invernizzi P, Miozzo M, Battezzati PM, Bianchi I, Grati FR, Simoni G, et al. Frequency of monosomy X in women with primary biliary cirrhosis. Lancet 2004; 363: 533-535.
6. Miozzo M, Selmi C, Gentilin B, Grati FR, Sirchia S, Oertelt S, et al. Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis. HEPATOLOGY 2007; 46: 456-462.
7. Selmi C, Mayo MJ, Bach N, Ishibashi H, Invernizzi P, Gish RG, et al. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment. Gastroenterology 2004; 127: 485-492.
8. International HapMap Consortium. A haplotype map of the human genome. Nature 2005; 437: 1299-1320.
9. Klein J, Sato A. The HLA system. First of two parts. N Engl J Med 2000; 343: 702-709.
10. Klein J, Sato A. The HLA system. Second of two parts. N Engl J Med 2000; 343: 782-786.
11. Invernizzi P, Gershwin ME. The genetics of human autoimmune disease. J Autoimmun 2009; 33: 290-299.
12. Invernizzi P, Selmi C, Poli F, Bianchi I, Rosina F, Floreani A, et al. HLA-DRB1 polymorphisms in 676 Italian patients with primary biliary cirrhosis and 2028 matched healthy controls. A nationwide population-based case-control study [Abstract]. HEPATOLOGY 2005; 42: 462A.
13. Invernizzi P, Selmi C, Poli F, Frison S, Floreani A, Alvaro D, et al. Human leukocyte antigen polymorphisms in Italian primary biliary cirrhosis: a multicenter study of 664 patients and 1992 healthy controls. HEPATOLOGY 2008; 48: 1906-1912.
14. Donaldson PT, Baragiotta A, Heneghan MA, Floreani A, Venturi C, Underhill JA, et al. HLA class II alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: a large-scale study. HEPATOLOGY 2006; 44: 667-674.
15. Hirschfield GM, Liu X, Xu C, Lu Y, Xie G, Lu Y, et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants. N Engl J Med 2009; 360: 2544-2555.
16. Liu X, Invernizzi P, Lu Y, Kosoy R, Lu Y, Bianchi I, et al. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis. Nat Genet 2010; 42: 658-660.
17. Mells GF, Floyd JA, Morley KI, Cordell HJ, Franklin CS, Shin SY, et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat Genet 2011; 43: 329-332.
18. Tanaka A, Borchers AT, Ishibashi H, Ansari AA, Keen CL, Gershwin ME. Genetic and familial considerations of primary biliary cirrhosis. Am J Gastroenterol 2001; 96: 8-15.
19. Hamlyn AN, Macklon AF, James O. Primary biliary cirrhosis: geographical clustering and symptomatic onset seasonality. Gut 1983; 24: 940-945.
20. Myszor M, James OF. The epidemiology of primary biliary cirrhosis in north-east England: an increasingly common disease? Q J Med 1990; 75: 377-385.
21. Brind AM, Bray GP, Portmann BC, Williams R. Prevalence and pattern of familial disease in primary biliary cirrhosis. Gut 1995; 36: 615-617.
22. Jones DE, Watt FE, Metcalf JV, Bassendine MF, James OF. Familial primary biliary cirrhosis reassessed: a geographically-based population study. J Hepatol 1999; 30: 402-407.
23. Gershwin ME, Selmi C, Worman HJ, Gold EB, Watnik M, Utts J, et al. Risk factors and comorbidities in primary biliary cirrhosis: a controlled interview-based study of 1032 patients. HEPATOLOGY 2005; 42: 1194-1202.
24. Chohan MR. Primary biliary cirrhosis in twin sisters. Gut 1973; 14: 213-214.
25. Kaplan MM, Rabson AR, Lee YM, Williams DL, Montaperto PA. Discordant occurrence of primary biliary cirrhosis in monozygotic twins. N Engl J Med 1994; 331: 951.
26. Mitchell MM, Lleo A, Zammataro L, Mayo MJ, Invernizzi P, Bach N, et al. Epigenetic investigation of variably X chromosome inactivated genes in monozygotic female twins discordant for primary biliary cirrhosis. Epigenetics 2011; 6: 95-102.
27. Ueno Y, Ambrosini YM, Moritoki Y, Ridgway WM, Gershwin ME. Murine models of autoimmune cholangitis. Curr Opin Gastroenterol 2010; 26: 274-279.
28. Aoki CA, Roifman CM, Lian ZX, Bowlus CL, Norman GL, Shoenfeld Y, et al. IL-2 receptor alpha deficiency and features of primary biliary cirrhosis. J Autoimmun 2006; 27: 50-53.
29. Agarwal K, Jones DE, Daly AK, James OF, Vaidya B, Pearce S, et al. CTLA-4 gene polymorphism confers susceptibility to primary biliary cirrhosis. J Hepatol 2000; 32: 538-541.
30. Fan LY, Tu XQ, Cheng QB, Zhu Y, Feltens R, Pfeiffer T, et al. 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.
31. Bittencourt PL, Palacios SA, Farias AQ, Abrantes-Lemos CP, Cancado EL, Carrilho FJ, et al. Analysis of major histocompatibility complex and CTLA-4 alleles in Brazilian patients with primary biliary cirrhosis. J Gastroenterol Hepatol 2003; 18: 1061-1066.
32. Oertelt S, Kenny TP, Selmi C, Invernizzi P, Podda M, Gershwin ME. SNP analysis of genes implicated in T cell proliferation in primary biliary cirrhosis. Clin Dev Immunol 2005; 12: 259-263.
33. Schott E, Witt H, Pascu M, van Boemmel F, Weich V, Bergk A, et al. Association of CTLA4 single nucleotide polymorphisms with viral but not autoimmune liver disease. Eur J Gastroenterol Hepatol 2007; 19: 947-951.
34. Donaldson P, Veeramani S, Baragiotta A, Floreani A, Venturi C, Pearce S, et al. Cytotoxic T-lymphocyte-associated antigen-4 single nucleotide polymorphisms and haplotypes in primary biliary cirrhosis. Clin Gastroenterol Hepatol 2007; 5: 755-760.
35. Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Petersen GM, Lazaridis KN. Interacting alleles of the coinhibitory immunoreceptor genes cytotoxic T-lymphocyte antigen 4 and programmed cell-death 1 influence risk and features of primary biliary cirrhosis. HEPATOLOGY 2008; 47: 563-570.
36. Juran BD, Atkinson EJ, Schlicht EM, Fridley BL, Lazaridis KN. Primary biliary cirrhosis is associated with a genetic variant in the 3' flanking region of the CTLA4 gene. Gastroenterology 2008; 135: 1200-1206.
37. Juran BD, Atkinson EJ, Larson JJ, Schlicht EM, Liu X, Heathcote EJ, et al. Carriage of a tumor necrosis factor polymorphism amplifies the cytotoxic T-lymphocyte antigen 4 attributed risk of primary biliary cirrhosis: evidence for a gene-gene interaction. HEPATOLOGY 2010; 52: 223-229.
38. Tanaka A, Nezu S, Uegaki S, Kikuchi K, Shibuya A, Miyakawa H, et al. Vitamin D receptor polymorphisms are associated with increased susceptibility to primary biliary cirrhosis in Japanese and Italian populations. J Hepatol 2009; 50: 1202-1209.
39. Tanaka A, Ohira H, Kikuchi K, Nezu S, Shibuya A, Bianchi I, et al. Genetic association of Fc receptor-like 3 polymorphisms with susceptibility to primary biliary cirrhosis: ethnic comparative study in Japanese and Italian patients. Tissue Antigens 2011; 77: 239-243.
40. Poupon R, Ping C, Chretien Y, Corpechot C, Chazouilleres O, Simon T, et al. Genetic factors of susceptibility and of severity in primary biliary cirrhosis. J Hepatol 2008; 49: 1038-1045.
41. Invernizzi P, Pasini S, Selmi C, Gershwin ME, Podda M. Female predominance and X chromosome defects in autoimmune diseases. J Autoimmun 2009; 33: 12-16.
42. McCluskey J, Peh CA. The human leucocyte antigens and clinical medicine: an overview. Rev Immunogenet 1999; 1: 3-20.
43. Etzensperger R, McMahon RM, Jones EY, Fugger L. Dissection of the multiple sclerosis associated DR2 haplotype. J Autoimmun 2008; 31: 201-207.
44. Baschal EE, Eisenbarth GS. Extreme genetic risk for type 1A diabetes in the post-genome era. J Autoimmun 2008; 31: 1-6.
45. Jacobson EM, Huber A, Tomer Y. The HLA gene complex in thyroid autoimmunity: from epidemiology to etiology. J Autoimmun 2008; 30: 58-62.
46. Husain Z, Kelly MA, Eisenbarth GS, Pugliese A, Awdeh ZL, Larsen CE, et al. The MHC type 1 diabetes susceptibility gene is centromeric to HLA-DQB1. J Autoimmun 2008; 30: 266-272.
47. Gebe JA, Unrath KA, Yue BB, Miyake T, Falk BA, Nepom GT. Autoreactive human T-cell receptor initiates insulitis and impaired glucose tolerance in HLA DR4 transgenic mice. J Autoimmun 2008; 30: 197-206.
48. Carson DA. Genetic factors in the etiology and pathogenesis of autoimmunity. FASEB J 1992; 6: 2800-2805.
49. Ercilla G, Pares A, Arriaga F, Bruguera M, Castillo R, Rodes J, et al. Primary biliary cirrhosis associated with HLA-DRw3. Tissue Antigens 1979; 14: 449-452.
50. Miyamori H, Kato Y, Kobayashi K, Hattori N. HLA antigens in Japanese patients with primary biliary cirrhosis and autoimmune hepatitis. Digestion 1983; 26: 213-217.
51. *0803 increases the susceptibility of Japanese to primary biliary cirrhosis. J Hepatol 1994; 21: 1053-1060.
52. Bassendine MF, Dewar PJ, James OF. HLA-DR antigens in primary biliary cirrhosis: lack of association. Gut 1985; 26: 625-628.
53. Briggs DC, Donaldson PT, Hayes P, Welsh KI, Williams R, Neuberger JM. A major histocompatibility complex class III allotype (C4B 2) associated with primary biliary cirrhosis (PBC). Tissue Antigens 1987; 29: 141-145.
54. Manns MP, Bremm A, Schneider PM, Notghi A, Gerken G, Prager-Eberle M, et al. HLA DRw8 and complement C4 deficiency as risk factors in primary biliary cirrhosis. Gastroenterology 1991; 101: 1367-1373.
55. Morling N, Dalhoff K, Fugger L, Georgsen J, Jakobsen B, Ranek L, et al. DNA polymorphism of HLA class II genes in primary biliary cirrhosis. Immunogenetics 1992; 35: 112-116.
56. Gores GJ, Moore SB, Fisher LD, Powell FC, Dickson ER. Primary biliary cirrhosis: associations with class II major histocompatibility complex antigens. HEPATOLOGY 1987; 7: 889-892.
57. Johnston DE, Kaplan MM, Miller KB, Connors CM, Milford EL. Histocompatibility antigens in primary biliary cirrhosis. Am J Gastroenterol 1987; 82: 1127-1129.
58. Prochazka EJ, Terasaki PI, Park MS, Goldstein LI, Busuttil RW. Association of primary sclerosing cholangitis with HLA-DRw52a. N Engl J Med 1990; 322: 1842-1844.
59. *0402 haplotype. HEPATOLOGY 1992; 16: 1404-1408.
60. *0501 in Japanese patients. HEPATOLOGY 1993; 18: 73-78.
61. Gregory WL, Daly AK, Dunn AN, Cavanagh G, Idle JR, James OF, et al. Analysis of HLA-class-II-encoded antigen-processing genes TAP1 and TAP2 in primary biliary cirrhosis. Q J Med 1994; 87: 237-244.
62. Zhang L, Weetman AP, Bassendine M, Oliveira DB. Major histocompatibility complex class-II alleles in primary biliary cirrhosis. Scand J Immunol 1994; 39: 104-106.
63. Begovich AB, Klitz W, Moonsamy PV, Van de Water J, Peltz G, Gershwin ME. Genes within the HLA class II region confer both predisposition and resistance to primary biliary cirrhosis. Tissue Antigens 1994; 43: 71-77.
64. *0301 in a German population. HEPATOLOGY 1995; 21: 398-402.
65. Underhill JA, Donaldson PT, Doherty DG, Manabe K, Williams R. HLA DPB polymorphism in primary sclerosing cholangitis and primary biliary cirrhosis. HEPATOLOGY 1995; 21: 959-962.
66. Donaldson P, Agarwal K, Craggs A, Craig W, James O, Jones D. HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with disease progression and disease susceptibility. Gut 2001; 48: 397-402.
67. Wassmuth R, Depner F, Danielsson A, Hultcrantz R, Loof L, Olson R, et al. HLA class II markers and clinical heterogeneity in Swedish patients with primary biliary cirrhosis. Tissue Antigens 2002; 59: 381-387.
68. Invernizzi P, Battezzati PM, Crosignani A, Perego F, Poli F, Morabito A, et al. Peculiar HLA polymorphisms in Italian patients with primary biliary cirrhosis. J Hepatol 2003; 38: 401-406.
69. Mullarkey ME, Stevens AM, McDonnell WM, Loubiere LS, Brackensick JA, Pang JM, et al. Human leukocyte antigen class II alleles in Caucasian women with primary biliary cirrhosis. Tissue Antigens 2005; 65: 199-205.
70. Nakamura M, Yasunami M, Kondo H, Horie H, Aiba Y, Komori A, et al. Analysis of HLA-DRB1 polymorphisms in Japanese patients with primary biliary cirrhosis (PBC): The HLA-DRB1polymorphism determines the relative risk of antinuclear antibodies for disease progression in PBC. Hepatol Res 2010; 40: 494-504.
71. Manns MP, Kruger M. Immunogenetics of chronic liver diseases. Gastroenterology 1994; 106: 1676-1697.
72. Hov JR, Lleo A, Selmi C, Woldseth B, Fabris L, Strazzabosco M, et al. Genetic associations in Italian primary sclerosing cholangitis: heterogeneity across Europe defines a critical role for HLA-C. J Hepatol 2010; 52: 712-717.
73. Hirschfield GM, Liu X, Han Y, Gorlov IP, Lu Y, Xu C, et al. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nat Genet 2010; 42: 655-657.
74. Alric L, Fort M, Izopet J, Vinel JP, Charlet JP, Selves J, et al. Genes of the major histocompatibility complex class II influence the outcome of hepatitis C virus infection. Gastroenterology 1997; 113: 1675-1681.
75. de Gruijl TD, Bontkes HJ, Walboomers JM, Coursaget P, Stukart MJ, Dupuy C, et al. Immune responses against human papillomavirus (HPV) type 16 virus-like particles in a cohort study of women with cervical intraepithelial neoplasia. I. Differential T-helper and IgG responses in relation to HPV infection and disease outcome. J Gen Virol 1999; 80( pt 2): 399-408.
76. Hendel H, Caillat-Zucman S, Lebuanec H, Carrington M, O'Brien S, Andrieu JM, et al. New class I and II HLA alleles strongly associated with opposite patterns of progression to AIDS. J Immunol 1999; 162: 6942-6946.
77. Thursz MR, Kwiatkowski D, Allsopp CE, Greenwood BM, Thomas HC, Hill AV. Association between an MHC class II allele and clearance of hepatitis B virus in the Gambia. N Engl J Med 1995; 332: 1065-1069.
78. Fanning LJ, Levis J, Kenny-Walsh E, Whelton M, O'Sullivan K, Shanahan F. HLA class II genes determine the natural variance of hepatitis C viral load. HEPATOLOGY 2001; 33: 224-230.
79. Hildesheim A, Wang SS. Host and viral genetics and risk of cervical cancer: a review. Virus Res 2002; 89: 229-240.
80. Malhotra U, Holte S, Dutta S, Berrey MM, Delpit E, Koelle DM, et al. Role for HLA class II molecules in HIV-1 suppression and cellular immunity following antiretroviral treatment. J Clin Invest 2001; 107: 505-517.
81. Fathman CG, Soares L, Chan SM, Utz PJ. An array of possibilities for the study of autoimmunity. Nature 2005; 435: 605-611.
82. Hardy J, Singleton A. Genomewide association studies and human disease. N Engl J Med 2009; 360: 1759-1768.
83. Horton R, Wilming L, Rand V, Lovering RC, Bruford EA, Khodiyar VK, et al. Gene map of the extended human MHC. Nat Rev Genet 2004; 5: 889-899.
84. Tanaka A, Invernizzi P, Ohira H, Kikuchi K, Nezu S, Kosoy R, et al. Replicated association of 17q12-21 with susceptibility of primary biliary cirrhosis in a Japanese cohort. Tissue Antigens 2011; doi: 10.1111/j. 1399-0039.2011.01684.x