Liver fibrosis: From animal models to mapping of human risk variants

Best Practice and Research: Clinical Gastroenterology

Volumn 24, Issue 5, 2010, Pages 635-646

  Weber, Susanne N ^a   Wasmuth, Hermann E ^b  

^a SAARLAND UNIVERSITY   (Germany)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

Author keywords

Animal models; Human association studies; Liver fibrosis

Indexed keywords

PLATELET DERIVED GROWTH FACTOR;

ANIMAL MODEL; DISEASE MARKER; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HAPLOTYPE; HAPLOTYPE MAP; HEPATITIS C; HEREDITY; HUMAN; LIVER FIBROSIS; LIVER MEMBRANE; NONHUMAN; PHENOTYPE; REVIEW; TRANSGENE;

EID: 77958107011     PISSN: 15216918     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bpg.2010.07.013     Document Type: Article

References (88)

1. S.L. Friedman Mechanisms of hepatic fibrogenesis Gastroenterology 134 2008 1655 1669
2. G. Garcia-Tsao, S. Friedman, J. Iredale, and M. Pinzani Now there are many (stages) where before there was one: in search of a pathophysiological classification of cirrhosis Hepatology 51 2010 1445 1449
3. T. Poynard, P. Bedossa, and P. Opolon Natural history of liver fibrosis progression in patients with chronic hepatitis C. The OBSVIRC, METAVIR, CLINIVIR, and DOSVIRC groups Lancet 349 1997 825 832
4. M. Wright, R. Goldin, and A. Fabre Measurement and determinants of the natural history of liver fibrosis in hepatitis C virus infection: a cross sectional and longitudinal study Gut 52 2003 574 579
5. A. Mallat, C. Hezode, and S. Lotersztajn Environmental factors as disease accelerators during chronic hepatitis C J Hepatol 48 2008 657 665
6. H.H. Thein, Q. Yi, G.J. Dore, and M.D. Krahn Estimation of stage-specific fibrosis progression rates in chronic hepatitis C virus infection: a meta-analysis and meta-regression Hepatology 48 2008 418 431
7. C. Hellerbrand, and H.E. Wasmuth Genomewide genetic association studies in hepatology: the end of searching for the needle in the haystack? Hepatology 46 2007 1661 1663
8. J.R. Jonsson, D.M. Purdie, A.D. Clouston, and E.E. Powell Recognition of genetic factors influencing the progression of hepatitis C: potential for personalized therapy Mol Diagn Ther 12 2008 209 218
9. S.L. Friedman Mechanisms of disease: mechanisms of hepatic fibrosis and therapeutic implications Nat Clin Pract Gastroenterol Hepatol 1 2004 98 105
10. S. Weber, O.A. Gressner, R. Hall, F. Grunhage, and F. Lammert Genetic determinants in hepatic fibrosis: from experimental models to fibrogenic gene signatures in humans Clin Liver Dis 12 2008 747 757
11. O. Abiola, J.M. Angel, and P. Avner The nature and identification of quantitative trait loci: a community's view Nat Rev Genet 4 2003 911 916
12. S. Hillebrandt, H.E. Wasmuth, and R. Weiskirchen Complement factor 5 is a quantitative trait gene that modifies liver fibrogenesis in mice and humans Nat Genet 37 2005 835 843
13. H.E. Wasmuth, F. Lammert, and M.M. Zaldivar Antifibrotic effects of CXCL9 and its receptor CXCR3 in livers of mice and humans Gastroenterology 137 2009 309 319
14. A. Henkel, Z. Wei, D.E. Cohen, and R.M. Green Mice overexpressing hepatic Abcb11 rapidly develop cholesterol gallstones Mamm Genome 16 2005 903 908
15. A. Figge, F. Lammert, and B. Paigen Hepatic overexpression of murine Abcb11 increases hepatobiliary lipid secretion and reduces hepatic steatosis J Biol Chem 279 2004 2790 2799
16. L. Yu, R.E. Hammer, and J. Li-Hawkins Disruption of Abcg5 and Abcg8 in mice reveals their crucial role in biliary cholesterol secretion Proc Natl Acad Sci U S A 99 2002 16237 16242
17. J.J. Smit, A.H. Schinkel, and R.P. Oude Elferink Homozygous disruption of the murine mdr2 P-glycoprotein gene leads to a complete absence of phospholipid from bile and to liver disease Cell 75 1993 451 462
18. P. Fickert, A. Fuchsbichler, and M. Wagner Regurgitation of bile acids from leaky bile ducts causes sclerosing cholangitis in Mdr2 (Abcb4) knockout mice Gastroenterology 127 2004 261 274
19. Y. Popov, E. Patsenker, P. Fickert, M. Trauner, and D. Schuppan Mdr2 (Abcb4)-/- mice spontaneously develop severe biliary fibrosis via massive dysregulation of pro- and antifibrogenic genes J Hepatol 43 2005 1045 1054
20. C. Henkel, M. Roderfeld, and R. Weiskirchen Changes of the hepatic proteome in murine models for toxically induced fibrogenesis and sclerosing cholangitis Proteomics 6 2006 6538 6548
21. T.H. Mauad, C.M. van Nieuwkerk, and K.P. Dingemans Mice with homozygous disruption of the mdr2 P-glycoprotein gene. A novel animal model for studies of nonsuppurative inflammatory cholangitis and hepatocarcinogenesis Am J Pathol 145 1994 1237 1245
22. M. Katzenellenbogen, L. Mizrahi, and O. Pappo Molecular mechanisms of liver carcinogenesis in the mdr2-knockout mice Mol Cancer Res 5 2007 1159 1170
23. M. Roderfeld, T. Rath, F. Lammert, C. Dierkes, J. Graf, and E. Roeb Innovative immunohistochemistry identifies MMP-9 expressing macrophages at the invasive front of murine HCC World J Hepatol 2 2010 175 179
24. J. Andrae, R. Gallini, and C. Betsholtz Role of platelet-derived growth factors in physiology and medicine Genes Dev 22 2008 1276 1312
25. J.C. Bonner Regulation of PDGF and its receptors in fibrotic diseases Cytokine Growth Factor Rev 15 2004 255 273
26. M. Pinzani, L. Gesualdo, G.M. Sabbah, and H.E. Abboud Effects of platelet-derived growth factor and other polypeptide mitogens on DNA synthesis and growth of cultured rat liver fat-storing cells J Clin Invest 84 1989 1786 1793
27. F. Thieringer, T. Maass, and P. Czochra Spontaneous hepatic fibrosis in transgenic mice overexpressing PDGF-A Gene 423 2008 23 28
28. P. Czochra, B. Klopcic, and E. Meyer Liver fibrosis induced by hepatic overexpression of PDGF-B in transgenic mice J Hepatol 45 2006 419 428
29. G.W. Hoyle, J. Li, and J.B. Finkelstein Emphysematous lesions, inflammation, and fibrosis in the lungs of transgenic mice overexpressing platelet-derived growth factor Am J Pathol 154 1999 1763 1775
30. J.S. Campbell, S.D. Hughes, and D.G. Gilbertson Platelet-derived growth factor C induces liver fibrosis, steatosis, and hepatocellular carcinoma Proc Natl Acad Sci U S A 102 2005 3389 3394
31. A.M. Gressner, R. Weiskirchen, K. Breitkopf, and S. Dooley Roles of TGF-beta in hepatic fibrosis Front Biosci 7 2002 d793 d807
32. N. Sanderson, V. Factor, and P. Nagy Hepatic expression of mature transforming growth factor beta 1 in transgenic mice results in multiple tissue lesions Proc Natl Acad Sci U S A 92 1995 2572 2576
33. S. Kanzler, A.W. Lohse, and A. Keil TGF-beta1 in liver fibrosis: an inducible transgenic mouse model to study liver fibrogenesis Am J Physiol 276 1999 G1059 G1068
34. D.E. Clouthier, S.A. Comerford, and R.E. Hammer Hepatic fibrosis, glomerulosclerosis, and a lipodystrophy-like syndrome in PEPCK-TGF-beta1 transgenic mice J Clin Invest 100 1997 2697 2713
35. A. Kolterud, E. Wandzioch, and L. Carlsson Lhx2 is expressed in the septum transversum mesenchyme that becomes an integral part of the liver and the formation of these cells is independent of functional Lhx2 Gene Expr Patterns 4 2004 521 528
36. E. Wandzioch, A. Kolterud, M. Jacobsson, S.L. Friedman, and L. Carlsson Lhx2-/- mice develop liver fibrosis Proc Natl Acad Sci U S A 101 2004 16549 16554
37. R.J. Huxtable Physiological actions of taurine Physiol Rev 72 1992 101 163
38. S. Yamamoto Plasma taurine in liver cirrhosis with painful muscle cramps Adv Exp Med Biol 403 1996 597 600
39. S.A. Weisdorf, D.K. Freese, J.J. Fath, M.Y. Tsai, and F.B. Cerra Amino acid abnormalities in infants with extrahepatic biliary atresia and cirrhosis J Pediatr Gastroenterol Nutr 6 1987 860 864
40. U. Warskulat, E. Borsch, and R. Reinehr Chronic liver disease is triggered by taurine transporter knockout in the mouse FASEB J 20 2006 574 576
41. T. Takehara, T. Tatsumi, and T. Suzuki Hepatocyte-specific disruption of Bcl-xL leads to continuous hepatocyte apoptosis and liver fibrotic responses Gastroenterology 127 2004 1189 1197
42. C. Tian, P.K. Gregersen, and M.F. Seldin Accounting for ancestry: population substructure and genome-wide association studies Hum Mol Genet 17 2008 R143 R150
43. K.F. Schulz, and D.A. Grimes Case-control studies: research in reverse Lancet 359 2002 431 434
44. L.R. Cardon, and L.J. Palmer Population stratification and spurious allelic association Lancet 361 2003 598 604
45. H.E. Wasmuth, S. Matern, and F. Lammert From genotypes to haplotypes in hepatobiliary diseases: one plus one equals (sometimes) more than two Hepatology 39 2004 604 607
46. K.A. Frazer, S.S. Murray, N.J. Schork, and E.J. Topol Human genetic variation and its contribution to complex traits Nat Rev Genet 10 2009 241 251
47. R. Bataller, K.E. North, and D.A. Brenner Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal Hepatology 37 2003 493 503
48. H. Huang, M.L. Shiffman, and S. Friedman A 7 gene signature identifies the risk of developing cirrhosis in patients with chronic hepatitis C Hepatology 46 2007 297 306
49. M. Marcolongo, B. Young, and F. Dal Pero A seven-gene signature (cirrhosis risk score) predicts liver fibrosis progression in patients with initially mild chronic hepatitis C Hepatology 50 2009 1038 1044
50. P. Pradat, E. Trepo, and A. Potthoff The cirrhosis risk score predicts liver fibrosis progression in patients with initially mild chronic hepatitis C Hepatology 51 2009 356 357
51. Y. Li, M. Chang, and O. Abar Multiple variants in toll-like receptor 4 gene modulate risk of liver fibrosis in Caucasians with chronic hepatitis C infection J Hepatol 51 2009 750 757
52. J. Guo, J. Loke, and F. Zheng Functional linkage of cirrhosis-predictive single nucleotide polymorphisms of Toll-like receptor 4 to hepatic stellate cell responses Hepatology 49 2009 960 968
53. A.M. Elsharkawy, F. Oakley, and D.A. Mann The role and regulation of hepatic stellate cell apoptosis in reversal of liver fibrosis Apoptosis 10 2005 927 939
54. E. Seki, S. De Minicis, and C.H. Osterreicher TLR4 enhances TGF-beta signaling and hepatic fibrosis Nat Med 13 2007 1324 1332
55. T. Von Hahn, J. Halangk, and H. Witt Relevance of endotoxin receptor CD14 and TLR4 gene variants in chronic liver disease Scand J Gastroenterol 43 2008 584 592
56. S. Hellier, A.J. Frodsham, and B.J. Hennig Association of genetic variants of the chemokine receptor CCR5 and its ligands, RANTES and MCP-2, with outcome of HCV infection Hepatology 38 2003 1468 1476
57. K. Promrat, D.H. McDermott, and C.M. Gonzalez Associations of chemokine system polymorphisms with clinical outcomes and treatment responses of chronic hepatitis C Gastroenterology 124 2003 352 360
58. Q.J. Gao, D.W. Liu, and S.Y. Zhang Polymorphisms of some cytokines and chronic hepatitis B and C virus infection World J Gastroenterol 15 2009 5610 5619
59. M. Samson, F. Libert, and B.J. Doranz Resistance to HIV-1 infection in caucasian individuals bearing mutant alleles of the CCR-5 chemokine receptor gene Nature 382 1996 722 725
60. G. Ahlenstiel, R.P. Woitas, and A. Iwan Effects of the CCR5-Delta32 mutation on hepatitis C virus-specific immune responses in patients with haemophilia Immunol Invest 38 2009 284 296
61. R. Bruno, S. Galastri, and P. Sacchi gp120 modulates the biology of human hepatic stellate cells: a link between HIV infection and liver fibrogenesis Gut 59 2010 513 520
62. C. Goulding, R. McManus, and A. Murphy The CCR5-delta32 mutation: impact on disease outcome in individuals with hepatitis C infection from a single source Gut 54 2005 1157 1161
63. O. Wald, O. Pappo, and Z.B. Ari The CCR5Delta32 allele is associated with reduced liver inflammation in hepatitis C virus infection Eur J Immunogenet 31 2004 249 252
64. H.E. Wasmuth, A. Werth, and T. Mueller CC chemokine receptor 5 delta32 polymorphism in two independent cohorts of hepatitis C virus infected patients without hemophilia J Mol Med 82 2004 64 69
65. E. Seki, S. De Minicis, and G.Y. Gwak CCR1 and CCR5 promote hepatic fibrosis in mice J Clin Invest 119 2009 1858 1870
66. A. Baragiotta, A. Floreani, and K. Agarwal Chemokine receptor 5 and primary biliary cirrhosis: a two-centre genetic association study Liver Int 24 2004 646 650
67. H.E. Wasmuth, M.M. Zaldivar, and M.L. Berres The fractalkine receptor CX3CR1 is involved in liver fibrosis due to chronic hepatitis C infection J Hepatol 48 2008 208 215
68. M.L. Berres, S. Papen, and K. Pauels A functional variation in CHI3L1 is associated with severity of liver fibrosis and YKL-40 serum levels in chronic hepatitis C infection J Hepatol 50 2009 370 376
69. T.M. Hung, S.C. Chang, and W.H. Yu A novel nonsynonymous variant of matrix metalloproteinase-7 confers risk of liver cirrhosis Hepatology 50 2009 1184 1193
70. K. Okamoto, K. Mimura, Y. Murawaki, and I. Yuasa Association of functional gene polymorphisms of matrix metalloproteinase (MMP)-1, MMP-3 and MMP-9 with the progression of chronic liver disease J Gastroenterol Hepatol 20 2005 1102 1108
71. M. Pinzani PDGF and signal transduction in hepatic stellate cells Front Biosci 7 2002 d1720 d1726
72. H.E. Wasmuth, C.G. Tag, and E. Van de Leur The Marburg I variant (G534E) of the factor VII-activating protease determines liver fibrosis in hepatitis C infection by reduced proteolysis of platelet-derived growth factor BB Hepatology 49 2009 775 780
73. M.M. Richardson, E.E. Powell, H.D. Barrie, A.D. Clouston, D.M. Purdie, and J.R. Jonsson A combination of genetic polymorphisms increases the risk of progressive disease in chronic hepatitis C J Med Genet 42 2005 e45
74. K.A. Frazer, D.G. Ballinger, and D.R. Cox A second generation human haplotype map of over 3.1 million SNPs Nature 449 2007 851 861
75. O.M. Abbas, M.H. Abdel-Rahman, N.A. Omar, H.M. Badran, and E.M. Amir Interleukin-10 promoter polymorphisms in hepatitis C patients with and without Schistosoma mansoni co-infection Liver Int 29 2009 1422 1430
76. T. Wiederholt, M. von Westernhagen, and M.M. Zaldivar Genetic variations of the chemokine scavenger receptor D6 are associated with liver inflammation in chronic hepatitis C Hum Immunol 69 2008 861 866
77. H.L. Chan, A.M. Tse, and A.M. Chim Association of cytokine gene polymorphisms and liver fibrosis in chronic hepatitis B J Gastroenterol Hepatol 23 2008 783 789
78. C.M. Drysdale, D.W. McGraw, and C.B. Stack Complex promoter and coding region beta 2-adrenergic receptor haplotypes alter receptor expression and predict in vivo responsiveness Proc Natl Acad Sci U S A 97 2000 10483 10488
79. C.H. Osterreicher, F. Stickel, and D.A. Brenner Genomics of liver fibrosis and cirrhosis Semin Liver Dis 27 2007 28 43
80. M.M. Miretti, E.C. Walsh, and X. Ke A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms Am J Hum Genet 76 2005 634 646
81. L.R. Cardon, and G.R. Abecasis Using haplotype blocks to map human complex trait loci Trends Genet 19 2003 135 140
82. X. Yuan, D. Waterworth, and J.R. Perry Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes Am J Hum Genet 83 2008 520 528
83. S. Romeo, J. Kozlitina, and C. Xing Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease Nat Genet 40 2008 1461 1465
84. R. Weiskirchen, and H.E. Wasmuth The genes that underlie fatty liver disease: the harvest has begun Hepatology 49 2009 692 694
85. S. Buch, C. Schafmayer, and H. Volzke A genome-wide association scan identifies the hepatic cholesterol transporter ABCG8 as a susceptibility factor for human gallstone disease Nat Genet 39 2007 995 999
86. H. Huang, M.L. Shiffman, and R.C. Cheung Identification of two gene variants associated with risk of advanced fibrosis in patients with chronic hepatitis C Gastroenterology 130 2006 1679 1687
87. J. Guo, F. Hong, and J. Loke A DDX5 S480A polymorphism is associated with increased transcription of fibrogenic genes in hepatic stellate cells J Biol Chem 285 2010 5428 5437
88. R.A. Lempicki, J.F. Schlaak, A. Murphy, and S. Kottilil Genome-wide single nucleotide polymorphism analysis identifies unique integrin beta 5 (ITGB5) haplotype in advanced liver fibrosis patients Hepatology 50 2009 942A