Genetics of IL28B and HCV-response to infection and treatment

Nature Reviews Gastroenterology and Hepatology

Volumn 9, Issue 7, 2012, Pages 406-417

  Hayes, C Nelson ^a   Imamura, Michio ^a   Aikata, Hiroshi ^a   Chayama, Kazuaki ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA INTERFERON; ANTIVIRUS AGENT; BOCEPREVIR; GAMMA GLUTAMYLTRANSFERASE; INTERLEUKIN 28B; LOW DENSITY LIPOPROTEIN; PEGINTERFERON ALPHA; RIBAVIRIN; TELAPREVIR;

DISEASE ASSOCIATION; DRUG RESPONSE; ERADICATION THERAPY; FATTY LIVER; GENE LOCUS; GENETIC ASSOCIATION; GENOTYPE; HEPATITIS C; HEPATITIS C VIRUS; HUMAN; MEDICAL DECISION MAKING; PATIENT SELECTION; PERSONALIZED MEDICINE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN POLYMORPHISM; REVIEW; TREATMENT RESPONSE; UNSPECIFIED SIDE EFFECT;

ANTIVIRAL AGENTS; DRUG THERAPY, COMBINATION; HEPATITIS C; HUMANS; INDIVIDUALIZED MEDICINE; INTERFERON-ALPHA; INTERLEUKINS; PHARMACOGENETICS; POLYETHYLENE GLYCOLS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECOMBINANT PROTEINS; RIBAVIRIN; TREATMENT OUTCOME;

EID: 84863497592     PISSN: 17595045     EISSN: 17595053     Source Type: Journal    
DOI: 10.1038/nrgastro.2012.101     Document Type: Review

References (97)

1. Choo, Q. L. et al. Isolation of a cDNA clone derived from a blood-borne non A, non B viral hepatitis genome. Science 244, 359-362 (1989).
2. Rehermann, B. Hepatitis C virus versus innate and adaptive immune responses: A tale of coevolution and coexistence. J. Clin. Invest. 119, 1745-1754 (2009).
3. Davis, G. L., Albright, J. E., Cook, S. F. & Rosenberg, D. M. Projecting future complications of chronic hepatitis C in the United States. Liver Transpl. 9, 331-338 (2003).
4. Hadziyannis, S. J. et al. Peginterferon-Alpha2a and ribavirin combination therapy in chronic hepatitis C: A randomized study of treatment duration and ribavirin dose. Ann. Intern. Med. 140, 346-355 (2004).
5. Fowell, A. J. & Nash, K. L. Telaprevir: A new hope in the treatment of chronic hepatitis C? Adv. Ther. 27, 512-522 (2010).
6. Ge, D. et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature 461, 399-401 (2009).
7. Tanaka, Y. et al. Genome-wide association of IL28B with response to pegylated interferon-Alpha and ribavirin therapy for chronic hepatitis C. Nat. Genet. 41, 1105-1109 (2009).
8. Suppiah, V. et al. IL28B is associated with response to chronic hepatitis C interferon-Alpha and ribavirin therapy. Nat. Genet. 41, 1100-1104 (2009).
9. Thomas, D. L. et al. Genetic variation in IL28B and spontaneous clearance of hepatitis C virus. Nature 461, 798-801 (2009).
10. Gad, H. H. et al. Interferon ? is functionally an interferon but structurally related to the interleukin 10 family. J. Biol. Chem. 284, 20869-20875 (2009).
11. Kotenko, S. V. et al. IFN-lambdas mediate antiviral protection through a distinct class II cytokine receptor complex. Nat. Immunol. 4, 69-77 (2003).
12. Sheppard, P. et al. IL 28, IL 29 and their class II cytokine receptor IL 28R. Nat. Immunol. 4, 63-68 (2003).
13. Yoshimoto, K. et al. Interleukin 28B acts synergistically with cisplatin to suppress the growth of head and neck squamous cell carcinoma. J. Immunother. 34, 139-148 (2011).
14. Morrow, M. P. et al. IL 28B/IFN-lambda 3 drives granzyme B loading and significantly increases CTL killing activity in macaques. Mol. Ther. 18, 1714-1723 (2010).
15. Zhang, L. et al. IL28B inhibits hepatitis C virus replication through the JAK-STAT pathway. J. Hepatol. 55, 289-298 (2011).
16. Zhou, Z. et al. Type III interferon (IFN) induces a type I IFN-like response in a restricted subset of cells through signaling pathways involving both the Jak-STAT pathway and the mitogen-Activated protein kinases. J. Virol. 81, 7749-7758 (2007).
17. Thomson, S. J. et al. The role of transposable elements in the regulation of IFN ?1 gene expression. Proc. Natl Acad. Sci. USA 106, 11564-11569 (2009).
18. Sommereyns, C., Paul, S., Staeheli, P & Michiels, T. IFN-lambda (IFN ?) is expressed in a tissue-dependent fashion and primarily acts on epithelial cells in vivo. PLoS Pathog. 4, e1000017 (2008).
19. Marcello, T. et al. Interferons alpha and lambda inhibit hepatitis C virus replication with distinct signal transduction and gene regulation kinetics. Gastroenterology 131, 1887-1898 (2006).
20. Iversen, M. B., Ank, N., Melchjorsen, J. & Paludan, S. R. Expression of type III interferon (IFN) in the vaginal mucosa is mediated primarily by dendritic cells and displays stronger dependence on NF kappaB than type I IFNs. J. Virol. 84, 4579-4586 (2010).
21. Thomas, D. L. et al. The natural history of hepatitis C virus infection: Host, viral, and environmental factors. JAMA 284, 450-456 (2000).
22. Kenny-Walsh, E. Clinical outcomes after hepatitis C infection from contaminated anti D immune globulin. Irish Hepatology Research Group. N. Engl. J. Med. 340, 1228-1233 (1999).
23. Naito, M. et al. SNPs in the promoter region of the osteopontin gene as a marker predicting the efficacy of interferon-based therapies in patients with chronic hepatitis C. J. Gastroenterol. 40, 381-388 (2005).
24. Tsukada, H. et al. A polymorphism in MAPKAPK3 affects response to interferon therapy for chronic hepatitis C. Gastroenterology 136, 1796-1805 e6 (2009).
25. Matsuyama, N. et al. The dinucleotide microsatellite polymorphism of the IFNAR1 gene promoter correlates with responsiveness of hepatitis C patients to interferon. Hepatol. Res. 25, 221-225 (2003).
26. Knapp, S. et al. Polymorphisms in interferon-induced genes and the outcome of hepatitis C virus infection: Roles of MxA, OAS 1 and PKR. Genes Immun. 4, 411-419 (2003).
27. Lange, C. M. & Zeuzem, S. IL28B single nucleotide polymorphisms in the treatment of hepatitis C. J. Hepatol. 55, 692-701 (2011).
28. Rauch, A. et al. Genetic variation in IL28B is associated with chronic hepatitis C and treatment failure: A genome-wide association study. Gastroenterology 138, 1338-1345 e1-7 (2010).
29. McCarthy, J. J. et al. Replicated association between an IL28B gene variant and a sustained response to pegylated interferon and ribavirin. Gastroenterology 138, 2307-2314 (2010).
30. Tillmann, H. L. et al. A polymorphism near IL28B is associated with spontaneous clearance of acute hepatitis C virus and jaundice. Gastroenterology 139, 1586-1592 e1 (2010).
31. Ruiz-Extremera, A. et al. Genetic variation in interleukin 28B with respect to vertical transmission of hepatitis C virus and spontaneous clearance in HCV-infected children. Hepatology 53, 1830-1838 (2011).
32. Lunge, V. R. et al. IL28B polymorphism associated with spontaneous clearance of hepatitis C infection in a Southern Brazilian HIV type 1 population. AIDS Res. Hum. Retroviruses 28, 215-219 (2011).
33. Knapp, S. et al. A polymorphism in IL28B distinguishes exposed, uninfected individuals from spontaneous resolvers of HCV infection. Gastroenterology 141, 320-325 e1-2 (2011).
34. Chayama, K. et al. Pretreatment virus load and multiple amino acid substitutions in the interferon sensitivity-determining region predict the outcome of interferon treatment in patients with chronic genotype 1b hepatitis C virus infection. Hepatology 25, 745-749 (1997).
35. Hayes, C. N. et al. HCV substitutions and IL28B polymorphisms on outcome of peg-interferon plus ribavirin combination therapy. Gut 60, 261-267 (2011).
36. Lindh, M. et al. IL28B polymorphisms determine early viral kinetics and treatment outcome in patients receiving peginterferon/ribavirin for chronic hepatitis C genotype 1. J. Viral Hepat. 18, e325-331 (2011).
37. Ochi, H. et al. IL 28B predicts response to chronic hepatitis C therapy- fine mapping and replication study in Asian populations. J. Gen. Virol. 92, 1071-1081 (2011).
38. Thompson, A. J. et al. Interleukin 28B polymorphism improves viral kinetics and is the strongest pretreatment predictor of sustained virologic response in genotype 1 hepatitis C virus. Gastroenterology 139, 120-129 e18 (2010).
39. Yu, M. L. et al. Role of interleukin 28B polymorphisms in the treatment of hepatitis C virus genotype 2 infection in Asian patients. Hepatology 53, 7-13 (2011).
40. Mangia, A. et al. Limited use of interleukin 28B in the setting of response-guided treatment with detailed on-treatment virological monitoring. Hepatology 54, 772-780 (2011).
41. Bochud, P. Y. et al. IL28B polymorphisms predict reduction of HCV RNA from the first day of therapy in chronic hepatitis C. J. Hepatol. 55, 980-988 (2011).
42. Moghaddam, A. et al. IL28B genetic variation and treatment response in patients with hepatitis C virus genotype 3 infection. Hepatology 53, 746-754 (2011).
43. Scott, J. et al. IL28B genotype effects during early treatment with peginterferon and ribavirin in difficult to treat hepatitis C virus infection. J. Infect. Dis. 204, 419-425 (2011).
44. Lin, C. Y. et al. IL28B SNP rs12979860 is a critical predictor for on-treatment and sustained virologic response in patients with hepatitis C virus genotype 1 infection. PLoS ONE 6, e18322 (2011).
45. Stattermayer, A. F. et al. Impact of IL28B genotype on the early and sustained virologic response in treatment-naive patients with chronic hepatitis C. Clin. Gastroenterol. Hepatol. 9, 344-350 e2 (2011).
46. Hsu, C. S. et al. Association of IL28B gene variations with mathematical modeling of viral kinetics in chronic hepatitis C patients with IFN plus ribavirin therapy. Proc. Natl Acad. Sci. USA 108, 3719-3724 (2011).
47. Dill, M. T. et al. Interferon-induced gene expression is a stronger predictor of treatment response than IL28B genotype in patients with hepatitis C. Gastroenterology 140, 1021-1031 (2011).
48. Honda, M. et al. Hepatic ISG expression is associated with genetic variation in interleukin 28B and the outcome of IFN therapy for chronic hepatitis C. Gastroenterology 139, 499-509 (2010).
49. Sarasin-Filipowicz, M. et al. Interferon signaling and treatment outcome in chronic hepatitis C. Proc. Natl Acad. Sci USA 105, 7034-7039 (2008).
50. Abe, H. et al. IL28 variation affects expression of interferon stimulated genes and peg-interferon and ribavirin therapy. J. Hepatol. 54, 1094-1101 (2011).
51. Abe, H. et al. Inverse association of IL28B genotype and liver mRNA expression of genes promoting or suppressing antiviral state. J. Med. Virol. 83, 1597-1607 (2011).
52. Shebl, F. M. et al. In the absence of HCV infection, interferon stimulated gene expression in liver is not associated with IL28B genotype. Gastroenterology 139, 1422-1424 (2010).
53. Asahina, Y. et al. Association of gene expression involving innate immunity and genetic variation in IL28B with antiviral response. Hepatology 55, 20-29 (2011).
54. Abe, H. et al. Common variation of IL28 affects gamma-GTP levels and inflammation of the liver in chronically infected hepatitis C virus patients. J. Hepatol. 53, 439-443 (2010).
55. Fabris, C. et al. IL 28B rs12979860 C/T allele distribution in patients with liver cirrhosis: Role in the course of chronic viral hepatitis and the development of HCC. J. Hepatol. 54, 716-722 (2011).
56. Falleti, E. et al. Role of interleukin 28B rs12979860 C/T polymorphism on the histological outcome of chronic hepatitis C: Relationship with gender and viral genotype. J. Clin. Immunol. 31, 891-899 (2011).
57. Marabita, F. et al. Genetic variation in the interleukin 28B gene is not associated with fibrosis progression in patients with chronic hepatitis C and known date of infection. Hepatology 54, 1127-1134 (2011).
58. Li, J. H. et al. Interferon-lambda genotype and low serum low-density lipoprotein cholesterol levels in patients with chronic hepatitis C infection. Hepatology 51, 1904-1911 (2010).
59. Tillmann, H. L. et al. Beneficial IL28B genotype associated with lower frequency of hepatic steatosis in patients with chronic hepatitis C. J. Hepatol. 55, 1195-1200 (2011).
60. Halfon, P. et al. A single IL28B genotype SNP rs12979860 determination predicts treatment response in patients with chronic hepatitis C genotype 1 virus. Eur. J. Gastroenterol. Hepatol. 23, 931-935 (2011).
61. Ladero, J. M. et al. Predicting response to therapy in chronic hepatitis C: An approach combining IL28B gene polymorphisms and clinical data. J. Gastroenterol. Hepatol. 27, 279-285 (2011).
62. Smith, K. R. et al. Identification of improved IL28B SNPs and haplotypes for prediction of drug response in treatment of hepatitis C using massively parallel sequencing in a cross-sectional European cohort. Genome Med. 3, 57 (2011).
63. Mangia, A. et al. An IL28B polymorphism determines treatment response of hepatitis C virus genotype 2 or 3 patients who do not achieve a rapid virologic response. Gastroenterology 139, 821-827 e1 (2010).
64. Asselah, T. et al. IL28B polymorphism is associated with treatment response in patients with genotype 4 chronic hepatitis C. J. Hepatol. 56, 527-532 (2011).
65. Kawaoka, T. et al. Predictive value of the IL28B polymorphism on the effect of interferon therapy in chronic hepatitis C patients with genotypes 2a and 2b. J. Hepatol. 54, 408-414 (2011).
66. Lindh, M. et al. Interleukin 28B gene variation at rs12979860 determines early viral kinetics during treatment in patients carrying genotypes 2 or 3 of hepatitis C virus. J. Infect. Dis. 203, 1748-1752 (2011).
67. Sakamoto, N. et al. Association of IL28B variants with response to pegylated-interferon alpha plus ribavirin combination therapy reveals intersubgenotypic differences between genotypes 2a and 2b. J. Med. Virol. 83, 871-878 (2011).
68. Sarrazin, C. et al. Importance of IL28B gene polymorphisms in hepatitis C virus genotype 2 and 3 infected patients. J. Hepatol. 54, 415-421 (2011).
69. Akuta, N. et al. Amino acid substitution in hepatitis C virus core region and genetic variation near the interleukin 28B gene predict viral response to telaprevir with peginterferon and ribavirin. Hepatology 52, 421-429 (2010).
70. Chayama, K. et al. IL28B but not ITPA polymorphism is predictive of response to pegylated interferon, ribavirin, and telaprevir triple therapy in patients with genotype 1 hepatitis C. J. Infect. Dis. 204, 84-93 (2011).
71. Grebely, J. et al. Potential role for interleukin 28B genotype in treatment decision-making in recent hepatitis C virus infection. Hepatology 52, 1216-1224 (2010).
72. Montes-Cano, M. A. et al. Interleukin 28B genetic variants and hepatitis virus infection by different viral genotypes. Hepatology 52, 33-37 (2010).
73. Aizawa, Y. et al. Genotype rs8099917 near the IL28B gene and amino acid substitution at position 70 in the core region of the hepatitis C virus are determinants of serum apolipoprotein B 100 concentration in chronic hepatitis C. Mol. Cell. Biochem. 360, 29-14 (2011).
74. Urban, T. J. et al. IL28B genotype is associated with differential expression of intrahepatic interferon-stimulated genes in patients with chronic hepatitis C. Hepatology 52, 1888-1896 (2010).
75. Onomoto, K. et al. Dysregulation of IFN system can lead to poor response to pegylated interferon and ribavirin therapy in chronic hepatitis C. PLoS ONE 6, e19799 (2011).
76. Barreiro, P. et al. Influence of interleukin 28B single-nucleotide polymorphisms on progression to liver cirrhosis in human immunodeficiency virus-hepatitis C virus-coinfected patients receiving antiretroviral therapy. J. Infect. Dis. 203, 1629-1636 (2011).
77. Kawai, T. et al. IPS 1, an adaptor triggering RIG I and Mda5-mediated type I interferon induction. Nat. Immunol. 6, 981-988 (2005).
78. Xu, L. G. et al. VISA is an adapter protein required for virus-triggered IFN-beta signaling. Mol. Cell. 19, 727-740 (2005).
79. Seth, R. B., Sun, L., Ea, C. K. & Chen, Z. J. Identification and characterization of MAVS, a mitochondrial antiviral signaling protein that activates NF kappaB and IRF 3. Cell 122, 669-682 (2005).
80. Sarasin-Filipowicz, M. et al. Interferon signaling and treatment outcome in chronic hepatitis C. Proc. Natl Acad. Sci. USA 105, 7034-7039 (2008).
81. Makowska, Z., Duong, F. H., Trincucci, G., Tough, D. F. & Heim, M. H. Interferon-beta and interferon-lambda signaling is not affected by interferon-induced refractoriness to interferon-Alpha in vivo. Hepatology 53, 1154-1163 (2011).
82. Muir, A. J. et al. Phase 1b study of pegylated interferon lambda 1 with or without ribavirin in patients with chronic genotype 1 hepatitis C virus infection. Hepatology 52, 822-832 (2010).
83. O'Brien, T. R. et al. An IL28B genotype-based clinical prediction model for treatment of chronic hepatitis C. PLoS ONE 6, e20904 (2011).
84. Romero-Gomez, M., Eslam, M., Ruiz, A. & Maraver, M. Genes and hepatitis C: Susceptibility, fibrosis progression and response to treatment. Liver Int. 31, 443-460 (2011).
85. Kurosaki, M. et al. Pre-treatment prediction of response to pegylated-interferon plus ribavirin for chronic hepatitis C using genetic polymorphism in IL28B and viral factors. J. Hepatol. 54, 439-448 (2011).
86. Ochi, H. et al. Toward the establishment of a prediction system for the personalized treatment of chronic hepatitis C. J. Infect. Dis. 205, 204-210 (2012).
87. Suppiah, V. et al. IL28B, HLA C, and KIR variants additively predict response to therapy in chronic hepatitis C virus infection in a European cohort: A cross-sectional study. PLoS Med. 8, e1001092 (2011).
88. De Rueda, P. M. et al. Importance of host genetic factors HLA and IL28B as predictors of response to pegylated interferon and ribavirin. Am. J. Gastroenterol. 106, 1246-1254 (2011).
89. Fattovich, G. et al. IL28B polymorphisms, IP 10 and viral load predict virological response to therapy in chronic hepatitis C. Aliment. Pharmacol. Ther. 33, 1162-1172 (2011).
90. Bitetto, D. et al. Complementary role of vitamin D deficiency and the interleukin 28B rs12979860 C/T polymorphism in predicting antiviral response in chronic hepatitis C. Hepatology 53, 1118-1126 (2011).
91. Akuta, N. et al. Amino acid substitution in hcv core region and genetic variation near the IL28B gene affect viral dynamics during telaprevir, peginterferon and ribavirin treatment. Intervirology http://dx.doi.org/10.1159/ 000323526.
92. Fukuhara, T. et al. Variants in IL28B in liver recipients and donors correlate with response to peg-interferon and ribavirin therapy for recurrent hepatitis C. Gastroenterology 139, 1577-1585 e1-e3 (2010).
93. Charlton, M. R. et al. Interleukin 28B polymorphisms are associated with histological recurrence and treatment response following liver transplantation in patients with hepatitis C virus infection. Hepatology 53, 317-324 (2011).
94. Coto-Llerena, M. et al. Donor and recipient IL28B polymorphisms in HCV-infected patients undergoing antiviral therapy before and after liver transplantation. Am. J. Transplant. 11, 1051-1057 (2011).
95. Kent, W. J. et al. The human genome browser at UCSC. Genome Res. 12, 996-1006 (2002).
96. Akuta, N. et al. Amino acid substitution in HCV core/NS5A region and genetic variation near IL28B gene affect treatment efficacy to interferon plus ribavirin combination therapy. Intervirology 55, 231-241 (2011).
97. Zeuzem, S. et al. Expert opinion on the treatment of patients with chronic hepatitis C. J. Viral Hepat. 16, 75-90 (2009).