Journal article
ITPA gene variants protect against anaemia in patients treated for chronic hepatitis C
J Fellay, AJ Thompson, D Ge, CE Gumbs, TJ Urban, KV Shianna, LD Little, P Qiu, AH Bertelsen, M Watson, A Warner, AJ Muir, C Brass, J Albrecht, M Sulkowski, JG McHutchison, DB Goldstein
Nature | Published : 2010
DOI: 10.1038/nature08825
Abstract
Chronic infection with the hepatitis C virus (HCV) affects 170 million people worldwide and is an important cause of liver-related morbidity and mortality. The standard of care therapy combines pegylated interferon (pegIFN) alpha and ribavirin (RBV), and is associated with a range of treatment-limiting adverse effects. One of the most important of these is RBV-induced haemolytic anaemia, which affects most patients and is severe enough to require dose modification in up to 15% of patients. Here we show that genetic variants leading to inosine triphosphatase deficiency, a condition not thought to be clinically important, protect against haemolytic anaemia in hepatitis-C-infected patients rece..
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Funding Acknowledgements
We are indebted to the IDEAL principal investigators, the study coordinators, nurses and patients involved in the study. We also thank E. Gustafson, P. Savino, D. Devlin, S. Noviello, M. Geffner, E. L. Heinzen, A. C. Need and E. T. Cirulli for their contributions to the study. This study was funded by the Schering-Plough Research Institute, Kenilworth, New Jersey. A.J.T. receives funding support from the National Health and Medical Research Council of Australia and the Gastroenterological Society of Australia.