Ge Dongliang, Fellay Jacques, Thompson Alexander J, Simon Jason S, Shianna Kevin V, Urban Thomas J, Heinzen Erin L, Qiu Ping, Bertelsen Arthur H, Muir Andrew J, Sulkowski Mark, McHutchison John G, Goldstein David B
Institute for Genome Sciences & Policy, Center for Human Genome Variation, Duke University, Durham, North Carolina 27708, USA.
Nature. 2009 Sep 17;461(7262):399-401. doi: 10.1038/nature08309. Epub 2009 Aug 16.
Chronic infection with hepatitis C virus (HCV) affects 170 million people worldwide and is the leading cause of cirrhosis in North America. Although the recommended treatment for chronic infection involves a 48-week course of peginterferon-alpha-2b (PegIFN-alpha-2b) or -alpha-2a (PegIFN-alpha-2a) combined with ribavirin (RBV), it is well known that many patients will not be cured by treatment, and that patients of European ancestry have a significantly higher probability of being cured than patients of African ancestry. In addition to limited efficacy, treatment is often poorly tolerated because of side effects that prevent some patients from completing therapy. For these reasons, identification of the determinants of response to treatment is a high priority. Here we report that a genetic polymorphism near the IL28B gene, encoding interferon-lambda-3 (IFN-lambda-3), is associated with an approximately twofold change in response to treatment, both among patients of European ancestry (P = 1.06 x 10(-25)) and African-Americans (P = 2.06 x 10(-3)). Because the genotype leading to better response is in substantially greater frequency in European than African populations, this genetic polymorphism also explains approximately half of the difference in response rates between African-Americans and patients of European ancestry.
丙型肝炎病毒(HCV)慢性感染影响着全球1.7亿人,并且是北美肝硬化的主要病因。虽然慢性感染的推荐治疗方案是使用聚乙二醇化干扰素-α-2b(PegIFN-α-2b)或聚乙二醇化干扰素-α-2a(PegIFN-α-2a)联合利巴韦林(RBV)进行为期48周的疗程,但众所周知,许多患者无法通过治疗治愈,而且欧洲血统的患者比非洲血统的患者治愈概率显著更高。除了疗效有限外,由于副作用导致一些患者无法完成治疗,治疗的耐受性通常也很差。出于这些原因,确定治疗反应的决定因素是当务之急。在此我们报告,编码干扰素-λ-3(IFN-λ-3)的IL28B基因附近的一个基因多态性与治疗反应约两倍的变化相关,在欧洲血统患者(P = 1.06 x 10(-25))和非裔美国人中均如此(P = 2.06 x 10(-3))。由于导致更好反应的基因型在欧洲人群中的频率远高于非洲人群,这种基因多态性也解释了非裔美国人和欧洲血统患者之间反应率差异的约一半。