Variants of the inosine triphosphate pyrophosphatase gene are associated with reduced relapse risk following treatment for HCV genotype 2/3

Hepatology

Volumn 59, Issue 6, 2014, Pages 2131-2139

  Rembeck, Karolina ^a   Waldenström, Jesper ^a   Hellstrand, Kristoffer ^a   Nilsson, Staffan ^b   Nyström, Kristina ^a   Martner, Anna ^a   Lindh, Magnus ^a   Norkrans, Gunnar ^a   Westin, Johan ^a   Pedersen, Court ^c   Färkkilä, Martti ^d   Langeland, Nina ^e   Buhl, Mads Rauning ^f   Mørch, Kristine ^e   Christensen, Peer Brehm ^c   Lagging, Martin ^a  

^a UNIVERSITY OF GOTHENBURG   (Sweden)

^b CHALMERS UNIVERSITY OF TECHNOLOGY   (Sweden)

^c UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^d UNIVERSITY OF HELSINKI   (Finland)

^e HAUKELAND UNIVERSITY HOSPITAL   (Norway)

^f AARHUS UNIVERSITY   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

INORGANIC PYROPHOSPHATASE; INOSINE TRIPHOSPHATE; INTERFERON; PEGINTERFERON ALPHA2A; RIBAVIRIN;

ADULT; ANEMIA; ARTICLE; CAUCASIAN; CONTROLLED STUDY; DRUG DOSE REDUCTION; DRUG WITHDRAWAL; ENZYME ACTIVITY; FEMALE; GENE; GENETIC ASSOCIATION; GENETIC POLYMORPHISM; GENOTYPE; HEPATITIS C; HEPATITIS C VIRUS GENOTYPE 2 INFECTION; HEPATITIS C VIRUS GENOTYPE 3 INFECTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MULTICENTER STUDY; OPEN STUDY; PATIENT COMPLIANCE; PHASE 3 CLINICAL TRIAL; PRIORITY JOURNAL; PSYCHOPATHY; RANDOMIZED CONTROLLED TRIAL; RELAPSE; RISK; THROMBOCYTOPENIA; TREATMENT DURATION;

ADULT; ANTIVIRAL AGENTS; DRUG THERAPY, COMBINATION; FEMALE; GENETIC VARIATION; GENOTYPE; HEPACIVIRUS; HEPATITIS C; HUMANS; INTERFERON-ALPHA; MALE; MIDDLE AGED; POLYETHYLENE GLYCOLS; PYROPHOSPHATASES; RECOMBINANT PROTEINS; RECURRENCE; RETROSPECTIVE STUDIES; RIBAVIRIN;

EID: 84901618184     PISSN: 02709139     EISSN: 15273350     Source Type: Journal    
DOI: 10.1002/hep.27009     Document Type: Article

References (38)

1. Fellay J, Thompson AJ, Ge D, Gumbs CE, Urban TJ, Shianna KV, et al. ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C. Nature 2010;464:405-408.
2. Ogawa E, Furusyo N, Nakamuta M, Kajiwara E, Nomura H, Dohmen K, et al. Clinical milestones for the prediction of severe anemia by chronic hepatitis C patients receiving telaprevir-based triple therapy. J Hepatol 2013;59:667-674.
3. Sumi S, Marinaki AM, Arenas M, Fairbanks L, Shobowale-Bakre M, Rees DC, et al. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency. Hum Genet 2002;111:360-367.
4. Shipkova M, Lorenz K, Oellerich M, Wieland E, von Ahsen N. Measurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population. Clin Chem 2006;52:240-247.
5. Maeda T, Sumi S, Ueta A, Ohkubo Y, Ito T, Marinaki AM, et al. Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population. Mol Gen Metab 2005;85:271-279.
6. Simone PD, Pavlov YI, Borgstahl GE. ITPA (inosine triphosphate pyrophosphatase): from surveillance of nucleotide pools to human disease and pharmacogenetics. Mutat Res 2013;753:131-46.
7. Stocco G, Cheok MH, Crews KR, Dervieux T, French D, Pei D, et al. Genetic polymorphism of inosine triphosphate pyrophosphatase is a determinant of mercaptopurine metabolism and toxicity during treatment for acute lymphoblastic leukemia. Clin Pharmacol Ther 2009;85:164-172.
8. Bierau J, Lindhout M, Bakker JA. Pharmacogenetic significance of inosine triphosphatase. Pharmacogenomics 2007;8:1221-1228.
9. Waisertreiger IS, Menezes MR, Randazzo J, Pavlov YI. Elevated levels of DNA strand breaks induced by a base analog in the human cell line with the P32T ITPA variant. J Nucleic Acids 2010;2010:pii 872180.
10. Behmanesh M, Sakumi K, Abolhassani N, Toyokuni S, Oka S, Ohnishi YN, et al. ITPase-deficient mice show growth retardation and die before weaning. Cell Death Differ 2009;16:1315-1322.
11. Hitomi Y, Cirulli ET, Fellay J, McHutchison JG, Thompson AJ, Gumbs CE, et al. Inosine triphosphate protects against ribavirin-induced adenosine triphosphate loss by adenylosuccinate synthase function. Gastroenterology 2011;140:1314-1321.
12. Thompson AJ, Clark PJ, Singh A, Ge D, Fellay J, Zhu M, et al. Genome-wide association study of interferon-related cytopenia in chronic hepatitis C patients. J Hepatol 2012;56:313-319.
13. Cardier JE, Erickson-Miller CL, Murphy MJ Jr. Differential effect of erythropoietin and GM-CSF on megakaryocytopoiesis from primitive bone marrow cells in serum-free conditions. Stem Cells 1997;15:286-290.
14. Thompson AJ, Santoro R, Piazzolla V, Clark PJ, Naggie S, Tillmann HL, et al. Inosine triphosphatase genetic variants are protective against anemia during antiviral therapy for HCV2/3 but do not decrease dose reductions of RBV or increase SVR. Hepatology 2011;53:389-395.
15. Eskesen AN, Melum E, Moghaddam A, Bjoro K, Verbaan H, Ring-Larsen H, et al. Genetic variants at the ITPA locus protect against ribavirin-induced hemolytic anemia and dose reduction in an HCV G2/G3 cohort. Eur J Gastroenterol Hepatol 2012;24:890-896.
16. Hadziyannis SJ, Sette H Jr, Morgan TR, Balan V, Diago M, Marcellin P, et al. Peginterferon-alpha2a and ribavirin combination therapy in chronic hepatitis C: a randomized study of treatment duration and ribavirin dose. Ann Intern Med 2004;140:346-355.
17. Lagging M, Langeland N, Pedersen C, Farkkila M, Buhl MR, Morch K, et al. Randomized comparison of 12 or 24 weeks of peginterferon alpha-2a and ribavirin in chronic hepatitis C virus genotype 2/3 infection. Hepatology 2008;47:1837-1845.
18. Ishak K, Baptista A, Bianchi L, Callea F, De Groote J, Gudat F, et al. Histological grading and staging of chronic hepatitis. J Hepatol 1995;22:696-699.
19. Westin J, Nordlinder H, Lagging M, Norkrans G, Wejstal R. Steatosis accelerates fibrosis development over time in hepatitis C virus genotype 3 infected patients. J Hepatol 2002;37:837-842.
20. Matthews DR, Hosker JP, Rudenski AS, Naylor BA, Treacher DF, Turner RC. Homeostasis model assessment: insulin resistance and beta-cell function from fasting plasma glucose and insulin concentrations in man. Diabetologia 1985;28:412-419.
21. Leutscher PD, Lagging M, Buhl MR, Pedersen C, Norkrans G, Langeland N, et al. Evaluation of depression as a risk factor for treatment failure in chronic hepatitis C. Hepatology 2010;52:430-435.
22. Ge D, Fellay J, Thompson AJ, Simon JS, Shianna KV, Urban TJ, et al. Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance. Nature 2009;461:399-401.
23. Sulkowski MS, Shiffman ML, Afdhal NH, Reddy KR, McCone J, Lee WM, et al. Hepatitis C virus treatment-related anemia is associated with higher sustained virologic response rate. Gastroenterology 2010;139:1602-1611, 1611 e1601.
24. Lindh M, Lagging M, Farkkila M, Langeland N, Morch K, Nilsson S, 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 2011;203:1748-1752.
25. Askarieh G, Alsio A, Pugnale P, Negro F, Ferrari C, Neumann AU, et al. Systemic and intrahepatic interferon-gamma-inducible protein 10 kDa predicts the first-phase decline in hepatitis C virus RNA and overall viral response to therapy in chronic hepatitis C. Hepatology 2010;51:1523-1530.
26. Kurosaki M, Tanaka Y, Tanaka K, Suzuki Y, Hoshioka Y, Tamaki N, et al. Relationship between polymorphisms of the inosine triphosphatase gene and anaemia or outcome after treatment with pegylated interferon and ribavirin. Antiviral Ther 2011;16:685-694.
27. Rotman Y, Noureddin M, Feld JJ, Guedj J, Witthaus M, Han H, et al. Effect of ribavirin on viral kinetics and liver gene expression in chronic hepatitis C. Gut 2014;63:161-169.
28. Hiramatsu N, Oze T, Yakushijin T, Inoue Y, Igura T, Mochizuki K, et al. Ribavirin dose reduction raises relapse rate dose-dependently in genotype 1 patients with hepatitis C responding to pegylated interferon alpha-2b plus ribavirin. J Viral Hepat 2009;16:586-594.
29. Gebeyehu G, Marquez VE, Van Cott A, Cooney DA, Kelley JA, Jayaram HN, et al. Ribavirin, tiazofurin, and selenazofurin: mononucleotides and nicotinamide adenine dinucleotide analogues. Synthesis, structure, and interactions with IMP dehydrogenase. J Med Chem 1985;28:99-105.
30. Kuipers OP. Random mutagenesis by using mixtures of dNTP and dITP in PCR. Methods Mol Biol 1996;57:351-356.
31. Thomas MJ, Platas AA, Hawley DK. Transcriptional fidelity and proofreading by RNA polymerase II. Cell 1998;93:627-637.
32. Liao JY, Thakur SA, Zalinger ZB, Gerrish KE, Imani F. Inosine-containing RNA is a novel innate immune recognition element and reduces RSV infection. PLoS One 2011;6:e26463.
33. Hultgren C, Milich DR, Weiland O, Sallberg M. The antiviral compound ribavirin modulates the T helper (Th) 1/Th2 subset balance in hepatitis B and C virus-specific immune responses. J Gen Virol 1998;79:2381-2391.
34. Lawitz E, Mangia A, Wyles D, Rodriguez-Torres M, Hassanein T, Gordon SC, et al. Sofosbuvir for previously untreated chronic hepatitis C infection. N Engl J Med 2013;368:1878-1887.
35. Jacobson IM, Gordon SC, Kowdley KV, Yoshida EM, Rodriguez-Torres M, Sulkowski MS, et al. Sofosbuvir for hepatitis C genotype 2 or 3 in patients without treatment options. N Engl J Med 2013;368:1867-1877.
36. Alsio A, Rembeck K, Askarieh G, Christensen PB, Farkkila M, Langeland N, et al. Impact of obesity on the bioavailability of peginterferon-alpha2a and ribavirin and treatment outcome for chronic hepatitis C genotype 2 or 3. PLoS One 2012;7:e37521.
37. Holmes SL, Turner BM, Hirschhorn K. Human inosine triphosphatase: catalytic properties and population studies. Clin Chim Acta 1979;97:143-153.
38. Verhoef VL, Fuller SA, Morris AJ. Individual variation of nucleoside triphosphate pyrophosphohydrolase activity in human erythrocytes, granulocytes, lymphocytes, and platelets. Biochem Genet 1980;18:235-245.