Genetic Risk Factors for Hepatic Fibrosis in Chronic Liver Diseases;Genetische Risikofaktoren der Fibrogenese bei Chronischen Lebererkrankungen

Medizinische Klinik

Volumn 98, Issue 12, 2003, Pages 754-762

  Wasmuth, Hermann E ^b   Lammert, Frank ^a   Matern, Siegfried ^a  

^a UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^b RWTH Aachen ^*

Author keywords

Association studies; Cytokines; Extracellular matrix; Haplotypes; Hepatic stellate cells; Single nucleotide polymorphisms

Indexed keywords

CYTOKINE; PROTEIN; RECEPTOR; REGULATOR PROTEIN;

AGE; ALCOHOL CONSUMPTION; ALCOHOL LIVER DISEASE; ANIMAL MODEL; AUTOIMMUNE HEPATITIS; BILIARY CIRRHOSIS; CASE CONTROL STUDY; CELL DIFFERENTIATION; CHRONIC LIVER DISEASE; CLINICAL TRIAL; CONTROLLED CLINICAL TRIAL; CONTROLLED STUDY; DISEASE ASSOCIATION; DISEASE COURSE; EXTRACELLULAR MATRIX; FIBROGENESIS; GENE LOCUS; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CODE; GENETIC POLYMORPHISM; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; GENOME; HEPATITIS C; HEPATITIS C VIRUS; HEREDITY; HOST; HUMAN; IMMUNOREGULATION; INFECTION; INFLAMMATION; LIVER FIBROSIS; MULTICENTER STUDY; MYOFIBROBLAST; NONHUMAN; PHENOTYPE; REVIEW; RISK FACTOR; SEX; STATISTICAL ANALYSIS; STELLATE CELL; TREATMENT INDICATION; TREATMENT OUTCOME;

ANIMALS; CASE-CONTROL STUDIES; CHRONIC DISEASE; CYTOKINES; DISEASE MODELS, ANIMAL; EXTRACELLULAR MATRIX; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HAPLOTYPES; HEPATITIS C, CHRONIC; HEPATITIS, AUTOIMMUNE; HUMANS; LIVER CIRRHOSIS; LIVER DISEASES; LIVER DISEASES, ALCOHOLIC; MALE; MICE; MUTATION; PHENOTYPE; POLYMORPHISM, SINGLE NUCLEOTIDE; RISK FACTORS;

ANIMALIA; HEPATITIS C VIRUS;

EID: 0347419933     PISSN: 07235003     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00063-003-1324-3     Document Type: Review

References (111)

1. Knitrell T, Saile B, Ramadori G. Fibrogenese. Pathophysiologie und therapeutische Ansätze. Internist (Berl) 1998;39:238-46.
2. Lammert F, Matern S. Leber. In: Siegenchaler W, Hng. Minische Pathophysiologie Stuttgart: Thieme, 2001:847-76.
3. Schuppan D, Ruehl M, Somasundaram R, et al. Matrix as a modulator of hepatic fibrogenesis. Semin Liver Dis 2001;21:351-72.
4. Friedman SL. Liver fibrosis - from bench to bedside. J Hepatol 2003;38:S38-53.
5. Eng FJ, Friedman SL. Transcriptional regulation in hepatic stellate cells. Semin Liver Dis 2001;21:385-95.
6. Brunt EM. Grading and staging the histopathological lesions of chronic hepatitis: the Knodell histology activity index and beyond. Hepatology 2000;31:241-6.
7. Hrubec Z, Omenn GS. Evidence of genetic predisposition to alcoholic cirrhosis and psychosis: twin concordances for alcoholism and its biological end points by zygosity among male veterans. Alcohol Clin Exp Res 1981;5:207-15.
8. Akuta N, Chayama K, Suzuki F, et al. Risk factors of hepatitis C virus-related liver cirrhosis in young adults: positive family history of liver disease and transporter associated with antigen processing 2(TAP2)*0201 allele. J Med Viro12001;64:109-16.
9. Hillebrandt S, Matern S, Lammert F. Mouse models for genetic dissection of polygenic gastrointestinal diseases. Eur J Clin Invest 2003;33:155-60.
10. Darvasi A. Experimental strategies for the genetic dissection of complex traits in animal models. Nat Genet 1998;18:19-24,
11. Korstanje R, Paigen B. From QTL to gene: the harvest begins. Nat Genet 2002;31:235-6
12. Hillebrandt S, Goos C, Matern S, et al. Genome-wide analysis of hepatic fibrosis in inbred mice identifies the susceptibility locus Hfib 1 on chromosome 15. Gastroenterology 2002;123:2041-51.
13. Botstein D, Risch N. Discovering genotypes underlying human phenotypes: past successes for Mendelian disease, future approaches for complex disease. Nat Genet 2003;33:S228-37.
14. Cardon LR, Palmer LJ. Population stratification and spurious allelic association. Lancet 2003;361:598-604.
15. Kim WR. The burden of hepatitis C in the United States. Hepatology 2002;36:S30-4.
16. Poynard T, Bedossa P, Opolon P. Natural history of liver fibrosis progression in patients with chronic hepatitis C. The OBSVIRC, METAVIR, CLINIVIR, and DOSVIRC groups. Lancet 1997;349:825-32.
17. Niederau C, Lange S, Heintges T, et al. Prognosis of chronic hepatitis C: results of a large, prospective cohort study. Hepatology 1998;28:1687-95.
18. Wiese M, Berr F, Lafrenz M, et al. Low frequency of cirrhosis in a hepatitis C (genotype 1b) single-source outbreak in germany: a 20-year multicenter study. Hepatology 2000;32:91-6.
19. Di Bisceglie AM. Natural history of hepatitis C: its impact on clinical management. Hepatology 2000;31:1014-8.
20. Ghany MG, Kleiner DE, Alter H, et al. Progression of fibrosis in chronic hepatitis C. Gastroenterology 2003;124:97-104.
21. Tong MJ, El-Farra NS, Reikes AR, et al. Clinical outcome after transfusion-associated hepatitis. N Engl J Med 1995;332:1463-6
22. Wright M, Goldin R, Hellier S, et al. Factor V Leiden polymorphism and the rate of fibrosis development in chronic hepatitis C virus infection. Gut 2003;52:1206-10.
23. Pinzani M, Marra F. Cytokine receptors and signaling in hepatic stellate cells. Semin Liver Dis 2001;21:397-416.
24. Marra F. Chemokines in liver inflammation and fibrosis. Front Biosci 2002;7:1899-914.
25. Alric L, Fort M, Izopet J, et al. Genes of the major histocompatibility complex class II influence the outcome of hepatitis C virus infection. Gastroenterology 1997;113:1675-81.
26. Cramp ME, Carucci P, Underhill J, et al. Association between HLA class II genotype and spontaneous clearance of hepatitis C viraemia. J Hepatol 1998;29:207-13.
27. Minton EJ, Smillie D, Neal KR, et al. Association between MHC class II alleles and clearance of circulating hepatitis C virus. Members of the Trent Hepatitis C Virus Study Group. J Infect Dis 1998;178:39-44.
28. Thursz M, Yallop R, Goldin R, et al., for the HENCORE group. Influence of MHC class II genotype on outcome of infection with hepatitis C virus. Lancet 1999;334:2119-24.
29. Thio CL, Thomas DL, Carrington M. Chronic viral hepatitis and the human genome. Hepatologv 2000;31:819-27.
30. Aikawa T, Kojima M, Onishi H, et al. HLA DRB1 DRB1 alleles and haplotypes influencing the progression of hepatitis C. J Med Virol 1996;49:274-8.
31. Kuzushita N, Hayashi N, Moribe T, et al. Influence of HLA haplotypes on the clinical courses of individuals infected with hepatitis C virus. Hepatology 1998;27:240-4.
32. Haruna Y, Miyamoto T, Yasunami R, et al. Human leukocyte antigen DKB1 1302 protects against bile duct damage and portal lymphocyte infiltration in patients with chronic hepatitis C. J Hepatol 2000;32:837-42.
33. Gressner AM, Weiskirchen R, Breitkopf K, et al. Roles of TGF-beta in hepatic fibrosis. Front Biosci 2002;7:793-807.
34. Powell EE, Edwards-Smith CJ, Hay JL, et al. Host genetic factors influence disease progression in chronic hepatitis C. Hepatology 2000;31:828-33.
35. Gewaltig J, Mangasser-Stephan K, Gartung C, et al. Association of polymorphisms of the transforming growth factor-beta 1 gene with the rate of progression of HCV-induced liver fibrosis. Clin Chim Acta 2002;316:83-94.
36. Tag CG, Mengsteab S, Hellerbrand C, et al. Analysis of the transforming growth factor-β1 (TGF-β1) codon 25 gene polymorphism by LightCycler-analysis in patients with chronic hepatitis C infection. Cytokine 2003:in press.
37. Höhler T, Kruger A, Gerken G, et al. Tumor necrosis factor-alpha promoter polymorphism at position - 238 is associated with chronic hepatitis C infection. J Med Virol 1998;34:173-7.
38. Yee LJ, Tang J, Herrera J, et al. Tumor necrosis factor gene polymorphisms in patients with cirrhosis from chronic hepatitis C virus infection. Genes Immun 2000;1:386-90.
39. Constantini PK, Wawrzynowicz-Syczewska M, Clare M, et al. Interleukin-1, interleukin-10 and tumour necrosis factor-alpha gene polymorphisms in hepatitis C virus infection: an investigation of the relationships with spontaneous viral clearance and response to alpha-interferon therapy. Liver 2002;22:404-12.
40. Hamada H, Yatsuhashi H, Yano K, et al. Interleukin-10 promoter polymorphisms and liver fibrosis progression in patients with chronic hepatitis C. J Hepatol 2003;39:457-8.
41. Reynolds WF, Patel K, Pianko S, et al. A genotypic association implicates myeloperoxidase in the progression of hepatic fibrosis in chro nic hepatitis C virus infection. Genes Immun 2002;3:345-9.
42. Sonzogni L, Silvestri L, De Silvestri A, et al. Polymorphisms of microsomal epoxide hydrolase gene and severity of HCV-related liver disease. Hepatology 2002;36:195-201.
43. Hennig BJ, Hellier S, Frodsham AJ, et al. Association of low-density lipoprotein receptor polymorphisms and outcome of hepatitis C infection. Genes Immun 2002;3:359-67.
44. Wozniak MA, Itzhaki RF, Faragher EB, et al., on behalf of the Trent HCV Study Group. Apolipoprotein E-epsilon 4 protects against severe liver disease caused by hepatitis C virus. Hepatology 2002;36:456-63.
45. Itzhaki RF, Irving WL, Wozniak MA. Apolipoprotein E and hepatitis C virus. Hepatology 2003;38:1060.
46. Pietrangelo A. Hemochromatosis gene modifies course of hepatitis C viral infection. Gastroenterology 2003;124:1509-23.
47. Smith BC, Gorve J, Guzail MA, et al. Heterozygosity for hereditary hemochromatosis is associated with more fibrosis in chronic hepatitis C. Hepatology 1998;27:1695-9.
48. Martinelli AL, Franco RF, Villanova MG, et al. Are haemochromatosis mutations related to the severity of liver disease in hepatitis C virus infection? Acta Haematol 2000;102:152-6.
49. Bonkovsky HL, Troy N, McNeal K, et al. Iron and HFE or TfR1 mutations as comorbid factors for development and progression of chronic hepatitis C. J Hepatol 2002;37:848-54.
50. Erhardt A, Maschner-Olberg A, Mellenthin C, et al. HFE mutations and chronic hepatitis C: H63D and C282Y heterozygosity are independent risk factors for liver fibrosis and cirrhosis. J Hepatol 2003;38:335-42.
51. Tung BY, Emond MJ, Bronner MP, et al. Hepatitis C, iron status, and disease severity: relationship with HFE mutations. Gastroenterology 2003;124:318-26.
52. Geier A, Reugels M, Weiskirchen R, et al. Common heterozygous hemochromatosis gene mutations are risk factors for inflammation and fibrosis in chronic hepatitis C. Liver Int 2003:in press.
53. Thorburn D, Curry G, Spooner R, et al. The role of iron and haemochromatosis gene mutations in the progression of liver disease in chronic hepatitis C. Gut 2002;50:248-52.
54. Kazemi-Shirazi L, Datz C, Maier-Dobersberger T, et al. The relation ofiron status and hemochromatosis gene mutations in patients with chronic hepatitis C. Gastroenterology 1999;116:127-34.
55. Piperno A, Vergani A, Malosio I, et al. Hepatic iron overload in patients with chronic viral hepatitis: role of HFE gene mutations. Hepatology 1998;28:1105-9.
56. Hézode C, Cazeneuve C, Coué O, et al. Liver iron accumulation in patients with chronic active hepatitis C: prevalence and role of hemochromatosis gene mutations and relationship with hepatic histological lesions. J Hepatol 1999;31:979-84.
57. Negro F, Samii K, Rubbia-Brandt L, et al. Hemochromatosis gene mutations in chronic hepatitis C patients with and without liver siderosis. J Med Virol 2000;60:21-7.
58. Pirisi M, Scott CA, Avellini C, et al. Iron deposition and progression of disease in chronic hepatitis C. Role of interface hepatitis, portal inflammation, and HFE missense mutations. Am J Clin Pathol 2000;113:546-54.
59. Mühlbauer M, Bosserhoff AK, Hartmann A, et al. A novel MCP-1 gene polymorphism is associated with hepatic MCP-1 expression and severity of HCV-related liver disease. Gastroenterology 2003;125:1085-93.
60. Woitas RP, Ahlenstiel G, Iwan A, et al. Frequency of the HIV-protective CC chemokine receptor 5-delta32/delta32 genotype is increased in hepatitis C. Gastroenterology 2002;12:1721-8.
61. Wu L, Paxton WA, Kassam N, et al. CCR5 levels and expression pattern correlate with infectability by macrophage-tropic HIV-1, in vitro. J Exp Med 1997;185:1681-91.
62. Mohsen AH, Easterbrook PJ, Taylor C, et al. Impact of human immunodeficiency virus (HIV) infection on the progression ofliver fibrosis in hepatitis C virus infected patients. Gut 2003;52:1035-40.
63. Zhang M, Goedert JJ, O'Brien TR. High frequency of CCR5-delta32 homozygosity in HCV-infected, HIV-1-uninfected hemophiliacs results from resistance to HIV-1. Gastroenterology 2003;124:867-8.
64. Mangia A, Santoro R, D'Agruma L, et al. HCV chronic infection and CCR5-delta32/delta.32. Gastroenterology 2003;124:868-9.
65. Poljak M, Seme K, Marin IJ, et al. Frequency of the 32-base pair deletion in the chemokine receptor CCR5 gene is not increased in hepatitis C patients. Gastroenterology 2003;124:1558-60.
66. Promrat K, McDermott DH, Gonzalez CM, et al. Associations of chemokine system polymorphisms with clinical outcomes and treatment responses of chronic hepatitis C. Gastroenterology 2003;124:352-60.
67. Glas J, Torok HP, Simperl C, et al. The delta 32 mutation of the chemokine-receptor 5 gene neither is correlated with chronic hepatitis C nor does it predict response to therapy with interferon-alpha and ribavirin. Clin Immunol 2003;108:46-50.
68. Wasmuch HE, Werth A, Müller T, et al. CC chemokine receptor 5 delta32 polymorphism in two independent cohorts of HCV infected patients without hemophilia. J Mol Med 2003:in press. (
69. Colhoun HM, McKeigue PM, Davey Snuth G. Problems of reporting genetic associations with complex outcomes. Lancet 2003;361:865-72.
70. Wasmuth HE, Werth A, Müller T, et al. Interacting RANTES/CCL5 gene variants modify the response to combination therapy with interferon-alpha and ribavirin in patients with chronic hepatitis C. Hepatology 2003;38:245A.
71. Kusano F, Tanaka Y, Marumo F, et al. Expression of C-C chemokines is associated with portal and periportal inflammation in the liver of patients with chronic hepatitis C. Lab Invest 2000;80:415-22.
72. Yamauchi M, Maezawa Y, Mizuharai Y, et al. Polymorphisms in alcohol metabolizing enzyme genes and alcoholic cirrhosis in Japanese patients: a multivariate analysis. Hepatology 1995;22:1136-42.
73. Borras E, Coutelle C, Rosell A, et al. Genetic polymorphism of alcohol dehydrogenase in europeans: the ADH2*2 allele decreases the risk for alcoholism and is associated with ADF43*1. Hepatology 2000;31:984-9.
74. Bassendine MF, Day CP. The inheritance of alcoholic liver disease. Baillieres Clin Gastroenterol 1998;12:317-35.
75. Frenzer A, Butler WJ, Norton ID, et al. Polymorphism in alcohol-metabolizing enzymes, glutathione S-transferases and apolipoprotein E and susceptibility to alcohol-induced cirrhosis and chronic pancreatitis. J Gastroenterol Hepatol 2002;17:177-82.
76. Grove J, Daly AK, Brown AS, et al. The Rsa1 polymorphism of CYP2E1 and susceptibility to alcoholic liver disaease in Caucasians: effect on age ofpresentation and dependence on alcohol dehydrogenase genotype. Pharmacogenetics 1998;8:335-42.
77. Grove J, Daly AK, Bassendine MF, et al. Association of a tumor necrosis factor promoter polymorphism with susceptibility to alcoholic steatohepatitis. Hepatology 1997;26:143-6.
78. Grove J, Daly AK, Bassendine MF, et al. Interleukin 10 promoter region polymorphisms and susceptibility to advanced alcoholic liver disease. Gut 2000;46:540-5.
79. Takamatsu M, Yamauchi M, Maezawa Y, et al. Genetic polymorphisms ofinterleukin-1 beta in association with the development ofalcoholic liver disease in Japanese patients. Am J Gastroenterol 2000;95:1305-11.
80. Stewart S, Jones D, Day CP. Alcoholic liver disease: new insights into mechanisms and preventative strategies. Trends Mol Med 2001;7:408-13.
81. Järveläinen HA, Orpana A, Perola M, et al. Promoter polymorphism of the CD14 endotoxin receptor gene as a risk factor for alcoholic liver disease. Hepatology 2001;33:1148-53.
82. Tatwalkar JA, Lindor KD. Primary biliary cirrhosis. Lancet 2003;362:53-61.
83. Brind AM, Bray GP, Portmann BC, et al. Prevalence and pattern of familial disease in primary biliary cirrhosis. Gut 1995;36:615-7.
84. Agarwal K, Jones DE, Bassendine MF. Genetic susceptibility to primary biliary cirrhosis. Eur J Gastroenterol Hepatol 1999;11:603-6.
85. Jones DE, Watt FE, Grove J, et al. Tumor necrosis factor-alpha promoter polymorphisms in primary biliary cirrhosis. J Hepatol 1999;30:232-6.
86. Tanaka A, Quaranta S, Mattalia A, et al. The tumor necrosis factor-alpha promoter correlates with progression of primary biliary cirrhosis. J Hepatol 1999;30:826-9.
87. Corpechot C, Benlian P, Barbu V, et al. Apolipoprotein E polymorphism, a marker of disease severity in primary biliary cirrhosis? J Hepatol 2001;35:324-8.
88. Donaldson PT, Agarwal K, Craggs, A, et al. HLA and interleukin 1 gene polymorphisms in primary biliary cirrhosis: associations with disease progression and disease susceptibility. Gut 2001;48:397-402.
89. Vogel A, Strassburg CP, Manns MP. Genetic association of vitamin D receptor polymorphisms with primary biliary cirrhosis and autoimmune hepatitis. Hepatology 2002;35:126-31.
90. Selmi C, Zuin M, Biondi ML, et al. Genetic variants of endothelial nitric oxide synthase in patients with primary biliary cirrhosis: association with disease severity. J Gastroenterol Hepatol 2003;18:1150-5.
91. Vuoristo M, Färkkilä M, Gylling H, et al. Expression and therapeutic response related to apolipoprotein E polymorphism in primary biliary cirrhosis. J Hepatol 1997;27:136-42.
92. Gordon MA, Oppenheim E, Camp NJ, et al. Primary biliary cirrhosis shows association with genetic polymorphism oftumour necrosis factor alpha promoter region. J Hepatol 1999;31:242-7.
93. Czaja AJ, Cookson S, Constantini PK, et al. Cytokine polymorphisms associated with clinical features and treatment outcome in type 1 autoimmune hepatitis. Gastroenterology 1999;117:645-52.
94. Manns MP, Jäckel E. Searching for the needle in the haystack: another candidate needle in autoimmune hepatitis. Gastroenterology 1999;117:728-31.
95. Spengler U. Unravelling complexity - the scientific basis of genetic predisposition in autoimmune liver disease. J Hepatol 2001;35:127-9.
96. Donaldson PT, Day CP. Predictive value of cytokine polymorphisms for liver disease. In: Gressner AM, Heinrich PC, Matern S, eds. Cytokines in liver injury and repair. Dordrecht: Kluwer Academic, 2002:253-65.
97. Hegele RA. SNP judgements and freedom of association. Arterioscler Thromb Vase Biol 2002;22:1058-61.
98. Bataller R, North KE, Brenner DA. Genetic polymorphisms and the progression of liver fibrosis: a critical appraisal. Hepatology 2003,37:493-503.
99. Purcell S, Cherny SS, Sham PC. Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003;19:149-50.
100. Nationaler Ethikrat, Hrsg. Biobanken-Chance fur den wissenschaftlichen Fortschritt oder Ausverkauf der "Ressource" Mensch? Vorträge der Jahrestagung des Nationalen Ethikrates 2002. Berlin: Nationaler Ethikrate, 2003:1-113.
101. Winickoff DE, Winickoff RN. The charitable trust as a model for genomic biobanks. N Engl J Med 2003;349:1180-4.
102. Deng HW. Population admixture may appear to mask, change or reverse genetic effects of genes underlying complex traits. Genetics 2001;159:1319-23.
103. Grimes DA, Schulz KF. Bias and causal associations in observational research. Lancet 2002;359:248-52.
104. Schulz KF, Grimes DA. Case-control studies: research in reverse. Lancet 2002;359:431-4.
105. Xu J, Turner A, Little J, et al. Positive results in association studies are associated with departure from Hardy-Weinberg equilibrium: hint for genotyping error? Hum Genet 2002;111:573-4.
106. Stephens M, Smith NJ, Donnelly P. A new statistical method for haplotype reconstruction from population data. Am J Hum Genet 2001:68:978-89.
107. Tiret L, Amouyel P, Rakotovao R, et al. Testing for association between disease and linked marker loci: a log-linear-model analysis. Am J Hum Genet 1991;48:926-34.
108. Hillebrandt S, Bock HH, Matern S, et al. Polygene Erkrankungen: Einsatz von Inzuchtstämmen für die Identifizierung krankheitsrelevanter Gene. Dtsch Med Wochenschr 2001;126:17-9.
109. Hillebrandt S, Weiskirchen R, Wismuth HE, et al. Complement factor 5 (C5) is a genetic determinant ofhepatic fibrosis in mice and humans. Hepatology 2003:38:222A-3A.
110. Fischer HP, Ortiz-Pallardo ME, Ko Y, et al. Chronic liver disease in heterozygous alpha1-antitrypsin deficiency PiZ. J Hepatol 2000;33:883-92.
111. Hellier S, et al. Association of genetic variants of the chemokine receptor CCR5 and its ligands RANTES and MCP-2 with outcome of HCV infection. Hepatology 2003:38:in press.