Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA.
Nature. 2010 Mar 18;464(7287):405-8. doi: 10.1038/nature08825. Epub 2010 Feb 21.
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 receiving RBV.
慢性丙型肝炎病毒（HCV）感染影响全球 1.7 亿人，是导致肝脏相关发病率和死亡率的重要原因。标准治疗方案包括聚乙二醇干扰素（pegIFN）α和利巴韦林（RBV），但会引起一系列治疗限制不良反应。其中最重要的是 RBV 诱导的溶血性贫血，这种贫血影响大多数患者，严重程度足以导致多达 15%的患者需要调整剂量。在这里，我们发现导致肌苷三磷酸酶缺乏的遗传变异可预防接受 RBV 治疗的丙型肝炎感染患者发生溶血性贫血，而肌苷三磷酸酶缺乏被认为在临床上并不重要。
