Familial primary biliary cirrhosis: Like mother, like daughter?

Acta Gastro-Enterologica Belgica

Volumn 75, Issue 2, 2012, Pages 203-209

  Smyk, D S ^a   Rigopoulou, E I ^b,c   Pares, A ^d   Mytilinaiou, M G ^a   Invernizzi, P ^e,f   Bogdanos, D P ^a  

^a KING S COLLEGE HOSPITAL   (United Kingdom)

^b UNIVERSITY HOSPITAL OF LARISSA   (Greece)

^c INSTITUTE OF HUMAN PERFORMANCE AND REHABILITATION   (Greece)

^d UNIVERSITY OF BARCELONA   (Spain)

^e HUMANITAS CLINICAL AND RESEARCH CENTER   (Italy)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

Autoantibody; Autoimmune disease; Autoimmunity; Familial risk; Genetics; Susceptibility

Indexed keywords

ALKALINE PHOSPHATASE; CELL NUCLEUS ANTIGEN; GAMMA GLUTAMYLTRANSFERASE;

AUTOIMMUNE DISEASE; ENZYME BLOOD LEVEL; FAMILIAL DISEASE; HUMAN; IMMUNOFLUORESCENCE; INFLAMMATION; INFORMATION RETRIEVAL; INTRAHEPATIC BILE DUCT; LIVER FAILURE; PRIMARY BILIARY CIRRHOSIS; REVIEW;

AUTOIMMUNE DISEASES; FEMALE; HUMANS; LIVER CIRRHOSIS, BILIARY; PEDIGREE;

EID: 84863553466     PISSN: 00015644     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (118)

1. Autoimmunity: From the mosaic to the kaleidoscope. Proceedings of a symposium in honor of Professor Shoenfeld in Tel Aviv, Israel, February 10-11, 2008. J Autoimmun., 2008, 30: 1-103.
2. JACOBSON D.L., GANGE S.J., ROSE N.R., GRAHAM N.M. Epidemiology and estimated population burden of selected autoimmune diseases in the United States. Clin. Immunol. Immunopathol., 1997, 84: 223-243.
3. COOPER G.S., BYNUM M.L., SOMERS E.C. Recent insights in the epidemiology of autoimmune diseases: improved prevalence estimates and understanding of clustering of diseases. J. Autoimmun., 2009, 33: 197-207.
4. SHAPIRA Y., AGMON-LEVIN N., SHOENFELD Y. Defining and analyzing geoepidemiology and human autoimmunity. J. Autoimmun., 2010, 34: J168-177.
5. THOMAS SL., GRIFFITHS C., SMEETH L., ROONEY C., HALL AJ. Burden of mortality associated with autoimmune diseases among females in the United Kingdom. Am. J. Public. Health, 2010, 100: 2279-2287.
6. SHAPIRA Y., AGMON-LEVIN N., SHOENFELD Y. Geoepidemiology of autoimmune rheumatic diseases. Nat. Rev. Rheumatol., 2010, 6: 468-476.
7. SOMERS E.C., THOMAS S.L., SMEETH L., HALL A.J. Autoimmune diseases co-occurring within individuals and within families: a systematic review. Epidemiology, 2006, 17: 202-217.
8. HEMMINKI K., LI X., SUNDQUIST J., SUNDQUIST K. Familial associations of rheumatoid arthritis with autoimmune diseases and related conditions. Arthritis and rheumatism, 2009, 60: 661-668.
9. HEMMINKI K., LI X., SUNDQUIST K., SUNDQUIST J. Familial association of inflammatory bowel diseases with other autoimmune and related diseases. Am. J. Gastroenterol., 2010, 105: 139-147.
10. HEMMINKI K., LI X., SUNDQUIST J., SUNDQUIST K. Familial association between type 1 diabetes and other autoimmune and related diseases. Diabetologia, 2009, 52: 1820-1828.
11. RAMAGOPALAN S.V., DYMENT D.A., VALDAR W., HERRERA B.M., CRISCUOLI M., YEE I.M. et al. Autoimmune disease in families with multiple sclerosis: a population-based study. Lancet Neurol, 2007, 6: 604-610.
12. LIN J.P., CASH J.M., DOYLE S.Z., PEDEN S., KANIK K., AMOS C.I. et al. Familial clustering of rheumatoid arthritis with other autoimmune diseases. Hum. Genet., 1998, 103: 475-482.
13. KAPLAN M.M., GERSHWIN M.E. Primary biliary cirrhosis. N. Engl. J. Med., 2005, 353: 1261-1273.
14. HOHENESTER S., OUDE-ELFERINK R.P., BEUERS U. Primary biliary cirrhosis. Semin. Immunopathol., 2009, 31: 283-307.
15. NEUBERGER J. Primary biliary cirrhosis. Lancet, 1997, 350: 875-879.
16. JAMES O.F., BHOPAL R., HOWEL D., GRAY J., BURT A.D., METCALF J.V. Primary biliary cirrhosis once rare, now common in the United Kingdom? Hepatology, 1999, 30: 390-394.
17. SOOD S., GOW P.J., CHRISTIE J.M., ANGUS P.W. Epidemiology of primary biliary cirrhosis in Victoria, Australia: high prevalence in migrant populations. Gastroenterology, 2004, 127: 470-475.
18. KIM W.R., LINDOR K.D., LOCKE G.R. 3RD., THERNEAU T.M., HOMBURGER H.A., BATTS K.P. et al. Epidemiology and natural history of primary biliary cirrhosis in a US community. Gastroenterology, 2000, 119: 1631-1636.
19. PETERS M.G., DI BISCEGLIE A.M., KOWDLEY K.V., FLYE N.L., LUKETIC V.A., MUNOZ S.J. et al. Differences between Caucasian, African American, and Hispanic patients with primary biliary cirrhosis in the United States. Hepatology, 2007, 46 (3): 769-75.
20. WATSON R.G., ANGUS P.W., DEWAR M., GOSS B., SEWELL R.B., SMALLWOOD R.A. Low prevalence of primary biliary cirrhosis in Victoria, Australia. Melbourne Liver Group. Gut, 1995, 36: 927-930.
21. ANAND A.C., ELIAS E., NEUBERGER J.M. End-stage primary biliary cirrhosis in a first generation migrant south Asian population. Eur. J. Gastroenterol. Hepatol., 1996, 8: 663-666.
22. BOGDANOS D.P., BAUM H., VERGANI D. Antimitochondrial and other autoantibodies. Clin. Liver Dis., 2003, 7: 759-777, vi.
23. BOGDANOS D.P., INVERNIZZI P., MACKAY I.R., VERGANI D. Autoimmune liver serology: current diagnostic and clinical challenges. World J. Gastroenterol., 2008, 14: 3374-3387.
24. COURVALIN J.C., WORMAN H.J. Nuclear envelope protein autoanti-bodies in primary biliary cirrhosis. Semin. Liver Dis., 1997, 17: 79-90.
25. SZOSTECKI C., GULDNER H.H., WILL H. Autoantibodies against "nuclear dots" in primary biliary cirrhosis. Semin. Liver Dis., 1997, 17: 71-78.
26. LIU H., NORMAN G.L., SHUMS Z., WORMAN H.J., KRAWITT E.L., BIZZARO N. et al. PBC screen: an IgG/IgA dual isotype ELISA detecting multiple mitochondrial and nuclear autoantibodies specific for primary biliary cirrhosis. J. Autoimmun., 2010, 35: 436-442.
27. DAHNRICH C., PARES A., CABALLERIA L., ROSEMANN A., SCHLUMBERGER W., PROBST C. et al. New ELISA for detecting primary biliary cirrhosis-specific antimitochondrial antibodies. Clin. Chem., 2009, 55: 978-985.
28. BOGDANOS D.P., KOMOROWSKI L. Disease-specific autoantibodies in primary biliary cirrhosis. Clin. Chim. Acta, 2011, 412: 502-512.
29. VAN NORSTRAND M.D., MALINCHOC M., LINDOR K.D., THERNEAU T.M., GERSHWIN M.E., LEUNG P.S. et al. Quantitative measurement of autoantibodies to recombinant mitochondrial antigens in patients with primary biliary cirrhosis: relationship of levels of autoanti-bodies to disease progression. Hepatology, 1997, 25: 6-11.
30. RIGOPOULOU E.I., BOGDANOS D.P., LIASKOS C., KOUTSOUMPAS A., BAUM H., VERGANI D. et al. Anti-mitochondrial antibody immunofluorescent titres correlate with the number and intensity of immuno blotdetected mitochondrial bands in patients with primary biliary cirrhosis. Clin. Chim. Acta, 2007, 380: 118-121.
31. RIGOPOULOU E.I., DAVIES E.T., BOGDANOS D.P., LIASKOS C., MYTILINAIOU M., KOUKOULIS G.K. et al. Antimitochondrial anti-bodies of immunoglobulin G3 subclass are associated with a more severe disease course in primary biliary cirrhosis. Liver Int., 2007, 27: 1226-1231.
32. RIGOPOULOU E.I., DAVIES E.T., PARES A., ZACHOU K., LIASKOS C., BOGDANOS D.P. et al. Prevalence and clinical significance of isotype specific antinuclear antibodies in primary biliary cirrhosis. Gut, 2005, 54: 528-532.
33. MIYACHI K., HANKINS R.W., MATSUSHIMA H., KIKUCHI F., INOMATA T., HORIGOME T. et al. Profile and clinical significance of antinuclear envelope antibodies found in patients with primary biliary cirrhosis: a multicenter study. J. Autoimmun., 2003, 20: 247-254.
34. NAKAMURA M., KONDO H., MORI T., KOMORI A., MATSUYAMA M., ITO M. et al. Anti-gp210 and anti-centromere anti-bodies are different risk factors for the progression of primary biliary cirrhosis. Hepatology, 2007, 45: 118-127.
35. BOGDANOS D.P., LIASKOS C., PARES A., NORMAN G., RIGOPOULOU E.I., CABALLERIA L. et al. Anti-gp210 antibody mirrors disease severity in primary biliary cirrhosis. Hepatology, 2007, 45: 1583; author reply-4.
36. BOGDANOS D.P., LIASKOS C., RIGOPOULOU E.I., DALEKOS G.N. Anti-mitochondrial antibodies in patients with systemic lupus erythematosus: revealing the unforeseen. Clin. Chim. Acta, 2006, 373: 183-4; author reply 5.
37. BOGDANOS D.P., PARES A., RODES J., VERGANI D. Primary biliary cirrhosis specific antinuclear antibodies in patients from Spain. Am. J. Gastroenterol., 2004, 99: 763-764; author reply 5.
38. BOGDANOS D.P., VERGANI D., MURATORI P., MURATORI L., BIANCHI F.B. Specificity of anti-sp100 antibody for primary biliary cirrhosis. Scand. J. Gastroenterol., 2004, 39: 405-406; author reply 7.
39. INVERNIZZI P., PODDA M., BATTEZZATI PM., CROSIGNANI A., ZUIN M., HITCHMAN E. et al. Autoantibodies against nuclear pore complexes are associated with more active and severe liver disease in primary biliary cirrhosis. J. Hepatol., 2001, 34: 366-372.
40. BOGDANOS D.P., DALEKOS G.N. Enzymes as target antigens of liverspecific autoimmunity: the case of cytochromes P450s. Curr. Med. Chem., 2008, 15: 2285-2292.
41. WESIERSKA-GADEK J., PENNER E., BATTEZZATI P.M., SELMI C., ZUIN M., HITCHMAN E. et al. Correlation of initial autoantibody profile and clinical outcome in primary biliary cirrhosis. Hepatology, 2006, 43: 1135-1144.
42. OERTELT S., RIEGER R., SELMI C., INVERNIZZI P., ANSARI A.A., COPPEL R.L. et al. A sensitive bead assay for antimitochondrial anti-bodies: Chipping away at AMA-negative primary biliary cirrhosis. Hepatology, 2007, 45: 659-665.
43. HIRSCHFIELD G.M., LIU X., HAN Y., GORLOV I.P., LU Y., XU C. et al. Variants at IRF5-TNPO3, 17q12-21 and MMEL1 are associated with primary biliary cirrhosis. Nat. Genet., 42: 655-657.
44. VERGANI D., BOGDANOS D.P. Positive markers in AMA-negative PBC. Am. J. Gastroenterol., 2003, 98: 241-243.
45. METCALF J.V., MITCHISON H.C., PALMER J.M., JONES D.E., BASSENDINE M.F., JAMES O.F. Natural history of early primary biliary cirrhosis. Lancet, 1996, 348: 1399-1402.
46. MITCHISON H.C., BASSENDINE M.F., HENDRICK A., BENNETT M.K., BIRD G., WATSON A.J. et al. Positive antimitochondrial antibody but normal alkaline phosphatase: is this primary biliary cirrhosis? Hepatology, 1986, 6: 1279-1284.
47. METCALF J.V., BHOPAL R.S., GRAY J., HOWEL D., JAMES O.F. Incidence and prevalence of primary biliary cirrhosis in the city of Newcastle upon Tyne, England. Int. J. Epidemiol., 1997, 26: 830-836.
48. KISAND K.E., KISAND K.V., KARVONEN A.L., VUORISTO M., MATTILA J., MAKINEN J., et al. Antibodies to pyruvate dehydrogenase in primary biliary cirrhosis: correlation with histology. Apmis, 1998, 106: 884-892.
49. LINDOR K.D., GERSHWIN M.E., POUPON R., KAPLAN M., BERGASA N.V., HEATHCOTE EJ. Primary biliary cirrhosis. Hepatology, 2009, 50: 291-308.
50. YANG WH., YU JH., NAKAJIMA A., NEUBERG D., LINDOR K., BLOCH DB. Do antinuclear antibodies in primary biliary cirrhosis patients identify increased risk for liver failure? Clin. Gastroenterol. Hepatol., 2004, 2: 1116-1122.
51. MC NALLY R.J., DUCKER S., JAMES O.F. Are transient environmental agents involved in the cause of primary biliary cirrhosis? Evidence from space-time clustering analysis. Hepatology, 2009, 50: 1169-1174.
52. MACKAY I.R., WHITTINGHAM S., FIDA S., MYERS M., IKUNO N., GERSHWIN M.E., et al. The peculiar autoimmunity of primary biliary cirrhosis. Immunol. Rev., 2000, 174: 226-237.
53. GERSHWIN M.E., MACKAY I.R. The causes of primary biliary cirrhosis: Convenient and inconvenient truths. Hepatology, 2008, 47: 737-745.
54. ALVARO D., INVERNIZZI P., ONORI P., FRANCHITTO A., DE SANTIS A., CROSIGNANI A. et al. Estrogen receptors in cholangiocytes and the progression of primary biliary cirrhosis. J. Hepatol., 2004, 41: 905-912.
55. AMANO K., LEUNG P.S., RIEGER R., QUAN C., WANG X., MARIK J. et al. Chemical xenobiotics and mitochondrial autoantigens in primary biliary cirrhosis: identification of antibodies against a common environmental, cosmetic, and food additive, 2-octynoic acid. J. Immunol., 2005, 174: 5874-5883.
56. AMANO K., LEUNG P.S., XU Q., MARIK J., QUAN C., KURTH M.J. et al. Xenobiotic-induced loss of tolerance in rabbits to the mitochondrial autoantigen of primary biliary cirrhosis is reversible. J. Immunol., 2004, 172: 6444-6452.
57. BOGDANOS D., PUSL T., RUST C., VERGANI D., BEUERS U. Primary biliary cirrhosis following lactobacillus vaccination for recurrent vaginitis. J. Hepatol., 2008, 49: 466-473.
58. BOGDANOS D.P., BAUM H., OKAMOTO M., MONTALTO P., SHARMA U.C., RIGOPOULOU E.I., et al. Primary biliary cirrhosis is characterized by IgG3 antibodies cross-reactive with the major mito-chondrial autoepitope and its Lactobacillus mimic. Hepatology, 2005, 42: 458-465.
59. BOGDANOS D.P., BAUM H., SHARMA U.C., GRASSO A., MA Y., BURROUGHS A.K. et al. Antibodies against homologous microbial caseinolytic proteases P characterise primary biliary cirrhosis. J. Hepatol., 2002, 36: 14-21.
60. INVERNIZZI P., MIOZZO M., BATTEZZATI P.M., BIANCHI I., GRATI F.R., SIMONI G. et al. Frequency of monosomy X in women with primary biliary cirrhosis. Lancet, 2004, 363: 533-535.
61. JONES D.E. Pathogenesis of primary biliary cirrhosis. Gut, 2007, 56: 1615-1624.
62. JONES D.E., DONALDSON P.T. Genetic factors in the pathogenesis of primary biliary cirrhosis. Clin. Liver Dis., 2003, 7: 841-864.
63. VERGANI D., BOGDANOS D.P., BAUM H. Unusual suspects in primary biliary cirrhosis. Hepatology, 2004, 39: 38-41.
64. SELMI C., GERSHWIN M.E. The role of environmental factors in primary biliary cirrhosis. Trends Immunol., 2009, 30: 415-420.
65. SELMI C., INVERNIZZI P., ZUIN M., PODDA M., GERSHWIN M.E. Genetics and geoepidemiology of primary biliary cirrhosis: following the footprints to disease etiology. Semin. Liver Dis., 2005, 25: 265-280.
66. SELMI C., INVERNIZZI P., ZUIN M., PODDA M., SELDIN M.F., GERSHWIN M.E. Genes and (auto)immunity in primary biliary cirrhosis. Genes Immun., 2005, 6: 543-556.
67. 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., 42: 658-660.
68. HIRSCHFIELD G.M., 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.
69. SMYK D., MYTILINAIOU M.G., RIGOPOULOU E.I., BOGDANOS D.P. PBC triggers in water reservoirs, coal mining areas and waste disposal sites: From Newcastle to New York. Dis. Markers, 2010, 29: 337-344.
70. SMYK D., RIGOPOULOU E.I., BAUM H., BURROUGHS A.K., VERGANI D., BOGDANOS D.P. Autoimmunity and Environment: Am I at risk? Clin. Rev. Allergy Immunol., 2011.
71. INVERNIZZI P., SELMI C., GERSHWIN M.E. Update on primary biliary cirrhosis. Dig. Liver Dis., 2010, 42: 401-408.
72. INVERNIZZI P., GERSHWIN ME. The genetic basis of primary biliary cirrhosis: premises, not promises. Gastroenterology, 2008, 135: 1044-1047.
73. HIRSCHFIELD G.M., INVERNIZZI P. Progress in the genetics of primary biliary cirrhosis. Semin. Liver Dis., 2011, 31: 147-156.
74. LAN R.Y., CHENG C., LIAN Z.X., TSUNEYAMA K., YANG G.X., MORITOKI Y. et al. Liver-targeted and peripheral blood alterations of regulatory T cells in primary biliary cirrhosis. Hepatology, 2006, 43: 729-737.
75. LONGHI M.S., MA Y., BOGDANOS D.P., CHEESEMAN P., MIELIVERGANI G., VERGANI D. Impairment of CD4(+)CD25(+) regulatory Tcells in autoimmune liver disease. J. Hepatol., 2004, 41: 31-37.
76. LONGHI M.S., MA Y., MITRY R.R., BOGDANOS D.P., HENEGHAN M., CHEESEMAN P. et al. Effect of CD4+ CD25+ regulatory T-cells on CD8 T-cell function in patients with autoimmune hepatitis. J. Autoimmun., 2005, 25: 63-71.
77. 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.
78. POUPON R., POUPON R.E. Retrovirus infection as a trigger for primary biliary cirrhosis? Lancet, 2004, 363: 260-261.
79. BOGDANOS D.P., BAUM H., GRASSO A., OKAMOTO M., BUTLER P., MA Y. et al. Microbial mimics are major targets of crossreactivity with human pyruvate dehydrogenase in primary biliary cirrhosis. J. Hepatol., 2004, 40: 31-39.
80. BOGDANOS D.P., VERGANI D. Bacteria and primary biliary cirrhosis. Clin. Rev. Allergy Immunol., 2009, 36: 30-39.
81. BOGDANOS DP., LENZI M., OKAMOTO M., RIGOPOULOU E.I., MURATORI P., MA Y. et al. Multiple viral/self immunological cross-reactivity in liver kidney microsomal antibody positive hepatitis C virus infected patients is associated with the possession of HLA B51. Int. J. Immuno-pathol. Pharmacol., 2004, 17: 83-92.
82. KERKAR N., CHOUDHURI K., MA Y., MAHMOUD A., BOGDANOS D.P., MURATORI L. et al. Cytochrome P4502D6(193-212): a new immunodominant epitope and target of virus/self cross-reactivity in liver kidney microsomal autoantibody type 1-positive liver disease. J. Immunol., 2003, 170: 1481-1489.
83. BOGDANOS D.P., MIELI-VERGANI G., VERGANI D. Virus, liver and autoimmunity. Dig. Liver Dis., 2000, 32: 440-446.
84. POLYMEROS D., BOGDANOS D.P., DAY R., ARIOLI D., VERGANI D., FORBES A. Does cross-reactivity between mycobacterium avium paratuber culosis and human intestinal antigens characterize Crohn's disease? Gastroenterology, 2006, 131: 85-96.
85. WEN L., MA Y., BOGDANOS D.P., WONG F.S., DEMAINE A., MIELI-VERGANI G. et al. Pediatric autoimmune liver diseases: the molecular basis of humoral and cellular immunity. Curr. Mol. Med., 2001, 1: 379-389.
86. BOGDANOS D.P., BAUM H., GUNSAR F., ARIOLI D., POLYMEROS D., MA Y. et al. Extensive homology between the major immunodominant mitochondrial antigen in primary biliary cirrhosis and Helicobacter pylori does not lead to immunological cross-reactivity. Scand. J. Gastroenterol., 2004, 39: 981-987.
87. MURATORI L., BOGDANOS D.P., MURATORI P., LENZI M., GRANITO A., MA Y. et al. Susceptibility to thyroid disorders in hepatitis C. Clin. Gastroenterol. Hepatol., 2005, 3: 595-603.
88. SHIMODA S., NAKAMURA M., SHIGEMATSU H., TANIMOTO H., GUSHIMA T., GERSHWIN M.E. et al. Mimicry peptides of human PDCE2 163-176 peptide, the immunodominant T-cell epitope of primary biliary cirrhosis. Hepatology, 2000, 31: 1212-1216.
89. SHIMODA S., VAN DE WATER J., ANSARI A., NAKAMURA M., ISHIBASHI H., COPPEL R.L. et al. Identification and precursor frequency analysis of a common T cell epitope motif in mitochondrial autoantigens in primary biliary cirrhosis. J. Clin. Invest., 1998, 102: 1831-1840.
90. BOGDANOS D.P., BAUM H., VERGANI D., BURROUGHS A.K. The role of E. coli infection in the pathogenesis of primary biliary cirrhosis. Dis. Markers, 2010, 29: 301-311.
91. BOGDANOS D.P., SMITH H., MA Y., BAUM H., MIELI-VERGANI G., VERGANI D. A study of molecular mimicry and immunological crossreactivity between hepatitis B surface antigen and myelin mimics. Clin. Dev. Immunol., 2005, 12: 217-224.
92. BOGDANOS D.P., BAUM H., BUTLER P., RIGOPOULOU E.I., DAVIES E.T., MA Y. et al. Association between the primary biliary cirrhosis specific anti-sp100 antibodies and recurrent urinary tract infection. Dig. Liver Dis., 2003, 35: 801-805.
93. BAUM H., BOGDANOS D.P., VERGANI D. Antibodies to Clp protease in primary biliary cirrhosis: possible role of a mimicking T-cell epitope. J. Hepatol., 2001, 34: 785-787.
94. VERGANI D., LONGHI M.S., BOGDANOS D.P., MA Y., MIELIVERGANI G. Autoimmune hepatitis. Semin. Immunopathol., 2009, 31: 421-435.
95. ABU-MOUCH S., SELMI C., BENSON G.D., KENNY T.P., INVERNIZZI P., ZUIN M. et al. Geographic clusters of primary biliary cirrhosis. Clin. Dev. Immunol., 2003, 10: 127-131.
96. SELMI C., MAYO M.J., BACH N., ISHIBASHI H., INVERNIZZI P., GISH R.G. et al. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment. Gastroenterology, 2004, 127: 485-492.
97. SMYK D., CHOLONGITAS E., KRIESE S., RIGOPOULOU E.I., BOGDANOS D.P. Primary biliary cirrhosis: family stories. Autoimmune Dis., 2011, 2011: 189585.
98. INVERNIZZI P. Human leukocyte antigen in primary biliary cirrhosis: An old story now reviving. Hepatology, 2011.
99. 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.
100. MELLS G.F., FLOYD J.A., MORLEY K.I., CORDELL H.J., FRANKLIN C.S., SHIN S.Y. et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis. Nat. Genet., 2011, 43: 329-332.
101. 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, 78: 65-68.
102. 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.
103. GERSHWIN M.E., MACKAY I.R. Primary biliary cirrhosis: paradigm or paradox for autoimmunity. Gastroenterology, 1991, 100: 822-833.
104. BOGDANOS D.P., VERGANI D. Origin of cross-reactive autoimmunity in primary biliary cirrhosis. Liver Int., 2006, 26: 633-635.
105. SHIMODA S., NAKAMURA M., ISHIBASHI H., HAYASHIDA K., NIHO Y. HLA DRB4 0101-restricted immunodominant T cell autoepitope of pyruvate dehydrogenase complex in primary biliary cirrhosis: evidence of molecular mimicry in human autoimmune diseases. J. Exp. Med., 1995, 181: 1835-1845.
106. JONES D.E., WATT F.E., METCALF J.V., BASSENDINE M.F., JAMES O.F. Familial primary biliary cirrhosis reassessed: a geographically-based population study. J. Hepatol., 1999, 30: 402-407.
107. BRIND A.M., BRAY G.P., PORTMANN B.C., WILLIAMS R. Prevalence and pattern of familial disease in primary biliary cirrhosis. Gut, 1995, 36: 615-617.
108. GERSHWIN M.E., SELMI C., WORMAN H.J., GOLD E.B., 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.
109. JAUP B.H., ZETTERGREN L.S. Familial occurrence of primary biliary cirrhosis associated with hypergammaglobulinemia in descendants: a family study. Gastroenterology, 1980, 78: 549-555.
110. LAZARIDIS K.N., JURAN B.D., BOE G.M., SLUSSER J.P., DE ANDRADE M., HOMBURGER H.A. et al. Increased prevalence of anti-mitochondrial antibodies in first-degree relatives of patients with primary biliary cirrhosis. Hepatology, 2007, 46: 785-792.
111. FAGAN E., WILLIAMS R., COX S. Primary biliary cirrhosis in mother and daughter. Br. Med. J., 1977, 2: 1195.
112. TONG M.J., NIES K.M., REYNOLDS T.B., QUISMORIO F.P. Immunological studies in familial primary biliary cirrhosis. Gastro-enterology, 1976, 71: 305-307.
113. DOUGLAS J.G., FINLAYSON N.D. Are increased individual susceptibility and environmental factors both necessary for the development of primary biliary cirrhosis? Br. Med. J., 1979, 2: 419-420.
114. DAHLAN Y., SMITH L., SIMMONDS D., JEWELL L.D., WANLESS I., HEATHCOTE E.J. et al. Pediatric-onset primary biliary cirrhosis. Gastroenterology, 2003, 125: 1476-1479.
115. CORPECHOT C., CHRETIEN Y., CHAZOUILLERES O., POUPON R. Demographic, lifestyle, medical and familial factors associated with primary biliary cirrhosis. J. Hepatol., 2010, 53: 162-169.
116. INVERNIZZI P., MIOZZO M., SELMI C., PERSANI L., BATTEZZATI P.M., ZUIN M. et al. X chromosome monosomy: a common mechanism for autoimmune diseases. J. Immunol., 2005, 175: 575-578.
117. SELMI C., INVERNIZZI P., MIOZZO M., PODDA M., GERSHWIN M.E. Primary biliary cirrhosis: does X mark the spot? Autoimmun. Rev., 2004, 3: 493-499.
118. MIOZZO M., SELMI C., GENTILIN B., GRATI F.R., SIRCHIA S., OERTELT S. et al. Preferential X chromosome loss but random inactivation characterize primary biliary cirrhosis. Hepatology, 2007, 46: 456-462.