Variants in the ITPA gene protect against ribavirin-induced hemolytic anemia and decrease the need for ribavirin dose reduction

Gastroenterology

Volumn 139, Issue 4, 2010, Pages

  Thompson, Alexander J ^a   Fellay, Jacques ^b   Patel, Keyur ^a   Tillmann, Hans L ^a   Naggie, Susanna ^a   Ge, Dongliang ^b   Urban, Thomas J ^b   Shianna, Kevin V ^b   Muir, Andrew J ^a   Fried, Michael W ^c   Afdhal, Nezam H ^d   Goldstein, David B ^b   McHutchison, John G ^a  

^a DUKE UNIVERSITY MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY   (United States)

^c UNIVERSITY OF NORTH CAROLINA   (United States)

^d BETH ISRAEL DEACONESS MEDICAL CENTER   (United States)

Author keywords

Adverse Event; Genome Wide Association Study; HCV; Pharmacogenomics; Polymorphism; Single Nucleotide Polymorphism

Indexed keywords

HEMOGLOBIN; INOSINE TRIPHOSPHATE; PEGINTERFERON ALPHA2A; RIBAVIRIN; ANTIVIRUS AGENT; INORGANIC PYROPHOSPHATASE; ITPA PROTEIN, HUMAN;

ADULT; ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; DRUG DOSE REDUCTION; ENZYME ACTIVITY; EXON; FEMALE; GENE; GENETIC VARIABILITY; GENOTYPE; HEMOGLOBIN BLOOD LEVEL; HEMOLYTIC ANEMIA; HEPATITIS C; HUMAN; INTRON; ITPA GENE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RNA SPLICING; TREATMENT OUTCOME; ANEMIA, HEMOLYTIC; CHEMICALLY INDUCED; DEFICIENCY; GENETICS; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; ANEMIA, HEMOLYTIC; ANTIVIRAL AGENTS; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PYROPHOSPHATASES; RIBAVIRIN; TREATMENT OUTCOME;

EID: 77957326039     PISSN: 00165085     EISSN: None     Source Type: Journal    
DOI: 10.1053/j.gastro.2010.06.016     Document Type: Article

References (30)

1. M.P. Manns, J.G. McHutchison, and S.C. Gordon Peginterferon alfa-2b plus ribavirin compared with interferon alfa-2b plus ribavirin for initial treatment of chronic hepatitis C: a randomised trial Lancet 358 2001 958 965
2. M.W. Fried, M.L. Shiffman, and K.R. Reddy Peginterferon alfa-2a plus ribavirin for chronic hepatitis C virus infection N Engl J Med 347 2002 975 982
3. J. Fellay, A.J. Thompson, and D. Ge ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C Nature 464 2010 405 408
4. S. Sumi, A.M. Marinaki, and M. Arenas Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency Hum Genet 111 2002 360 367
5. T. Maeda, S. Sumi, and A. Ueta Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population Mol Genet Metab 85 2005 271 279
6. M. Shipkova, K. Lorenz, and M. Oellerich Measurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population Clin Chem 52 2006 240 247
7. S. Atanasova, M. Shipkova, and D. Svinarov Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6 Ther Drug Monit 29 2007 6 10
8. H.S. Conjeevaram, M.W. Fried, and L.J. Jeffers Peginterferon and ribavirin treatment in African American and Caucasian American patients with hepatitis C genotype 1 Gastroenterology 131 2006 470 477
9. D. Ge, J. Fellay, and A.J. Thompson Genetic variation in IL28B predicts hepatitis C treatment-induced viral clearance Nature 461 2009 399 401
10. J.G. McHutchison, M. Manns, and K. Patel Adherence to combination therapy enhances sustained response in genotype-1-infected patients with chronic hepatitis C Gastroenterology 123 2002 1061 1069
11. Y. Tanaka, N. Nishida, and M. Sugiyama Genome-wide association of IL28B with response to pegylated interferon-alpha and ribavirin therapy for chronic hepatitis C Nat Genet 41 2009 11051009
12. V. Suppiah, M. Moldovan, and G. Ahlenstiel IL28B is associated with response to chronic hepatitis C interferon-alpha and ribavirin therapy Nat Genet 41 2009 1100 1104
13. C.D. Howell, A.J. Thompson, and K. Ryan IL28B genetic variation is associated with early viral kinetics and SVR in HCV genotype 1: the VIRAHEP-C Study Proceedings of the 45th Annual Meeting of the European Association for the Study of the Liver (EASL) 2010 Vienna, Austria
14. M. Sulkowski, M. Shiffman, and N. Afdhal Hemoglobin decline is associated with SVR among HCV genotype 1-infected persons treated with peginterferon (PEG)/ribavirin(RBV): analysis from the IDEAL study (A126) J Hepatol 50 Suppl 1 2009 S51
15. M.L. Shiffman, M.G. Ghany, and T.R. Morgan Impact of reducing peginterferon alfa-2a and ribavirin dose during retreatment in patients with chronic hepatitis C Gastroenterology 132 2007 103 112
16. K.R. Reddy, M.L. Shiffman, and T.R. Morgan Impact of ribavirin dose reductions in hepatitis C virus genotype 1 patients completing peginterferon alfa-2a/ribavirin treatment Clin Gastroenterol Hepatol 5 2007 124 129
17. E.I. Stepchenkova, E.R. Tarakhovskaya, and K. Spitler Functional study of the P32T ITPA variant associated with drug sensitivity in humans J Mol Biol 392 2009 602 613
18. J. Bierau, M. Lindhout, and J.A. Bakker Pharmacogenetic significance of inosine triphosphatase Pharmacogenomics 8 2007 1221 1228
19. L. De Franceschi, G. Fattovich, and F. Turrini Hemolytic anemia induced by ribavirin therapy in patients with chronic hepatitis C virus infection: role of membrane oxidative damage Hepatology 31 2000 997 1004
20. I. Grossman, P.F. Sullivan, and N. Walley Genetic determinants of variable metabolism have little impact on the clinical use of leading antipsychotics in the CATIE study Genet Med 10 2008 720 729
21. M.J. Rieder, A.P. Reiner, and B.F. Gage Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose N Engl J Med 352 2005 2285 2293
22. S. Mallal, D. Nolan, and C. Witt Association between presence of HLA-B (*)5701, HLA-DR7, and HLA-DQ3 and hypersensitivity to HIV-1 reverse-transcriptase inhibitor abacavir Lancet 359 2002 727 732
23. N. Reau, S.J. Hadziyannis, and D. Messinger Early predictors of anemia in patients with hepatitis C genotype 1 treated with peginterferon alfa-2a (40KD) plus ribavirin Am J Gastroenterol 103 2008 1981 1988
24. M.L. Shiffman, J. Salvatore, and S. Hubbard Treatment of chronic hepatitis C virus genotype 1 with peginterferon, ribavirin, and epoetin alpha Hepatology 46 2007 371 379
25. J.G. McHutchison, G.T. Everson, and S.C. Gordon Telaprevir with peginterferon and ribavirin for chronic HCV genotype 1 infection N Engl J Med 360 2009 1827 1838
26. P. Kwo, E.J. Lawitz, and J. McCone HCV SPRINT-1 final results: SVR 24 from a phase II study of boceprevir plus peginterferon alfa-2b/ribavirin in treatment-naive subjects with genotype 1 chronic hepatitis C J Hepatol 50 2009 S4
27. S. Sumi, A.M. Marinaki, M. Arenas, L. Fairbanks, M. Shobowale-Bakre, D.C. Rees, S.L. Thein, A. Ansari, J. Sanderson, R.A. De Abreu, H.A. Simmonds, and J.A. Duley Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency Hum Genet 111 2002 360 367
28. T. Maeda, S. Sumi, A. Ueta, Y. Ohkubo, T. Ito, A.M. Marinaki, Y. Kurono, S. Hasegawa, and H. Togari Genetic basis of inosine triphosphate pyrophosphohydrolase deficiency in the Japanese population Mol Genet Metab 85 2005 271 279
29. M. Shipkova, K. Lorenz, M. Oellerich, E. Wieland, and N. von Ahsen Measurement of erythrocyte inosine triphosphate pyrophosphohydrolase (ITPA) activity by HPLC and correlation of ITPA genotype-phenotype in a Caucasian population Clin Chem 52 2006 240 247
30. S. Atanasova, M. Shipkova, D. Svinarov, A. Mladenova, M. Genova, E. Wieland, M. Oellerich, and N. von Ahsen Analysis of ITPA phenotype-genotype correlation in the Bulgarian population revealed a novel gene variant in exon 6 Ther Drug Monit 29 2007 6 10