ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C

Jacques Fellay, Alexander J. Thompson, Dongliang Ge, Curtis E. Gumbs, Thomas J. Urban, Kevin V. Shianna, Latasha D. Little, Ping Qiu, Arthur H. Bertelsen, Mark Watson, Amelia Warner, Andrew J. Muir, Clifford Brass, Janice Albrecht, Mark Sulkowski, John G. McHutchison () and David B. Goldstein ()
Additional contact information
Jacques Fellay: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Alexander J. Thompson: School of Medicine, Duke University, Durham, North Carolina 27705, USA
Dongliang Ge: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Curtis E. Gumbs: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Thomas J. Urban: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Kevin V. Shianna: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Latasha D. Little: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA
Ping Qiu: Schering-Plough Research Institute, Kenilworth, New Jersey 07033, USA
Arthur H. Bertelsen: Schering-Plough Research Institute, Kenilworth, New Jersey 07033, USA
Mark Watson: Schering-Plough Research Institute, Kenilworth, New Jersey 07033, USA
Amelia Warner: Schering-Plough Research Institute, Kenilworth, New Jersey 07033, USA
Andrew J. Muir: School of Medicine, Duke University, Durham, North Carolina 27705, USA
Clifford Brass: Schering-Plough Research Institute, Kenilworth, New Jersey 07033, USA
Janice Albrecht: Schering-Plough Research Institute, Kenilworth, New Jersey 07033, USA
Mark Sulkowski: Johns Hopkins University School of Medicine, Baltimore, Maryland 21205, USA
John G. McHutchison: School of Medicine, Duke University, Durham, North Carolina 27705, USA
David B. Goldstein: Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA

Nature, 2010, vol. 464, issue 7287, 405-408

Abstract: Protection against anaemia due to hepatitis C treatments The standard treatment for chronic hepatitis C infection, pegylated interferon (pegIFN) and ribavirin (RBV), carries a range of unpleasant side effects including haemolytic anaemia. Now a genome-wide association study using DNA samples from more than a thousand hepatitis C patients reveals that that genetic variants that lead to inosine triphosphatase deficiency are protective against ribovario-induced haemolytic anaemia. Because inosine triphosphatase deficiency seems to be a benign condition, therapies that target this enzyme could help protect against RBV-induced anaemia. And testing patients for the deficiency could help identify those at risk from this particular side effect.

Date: 2010
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DOI: 10.1038/nature08825

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