Clinical applicdtion of SNP analysis in liver diseases

我们研究了SNP分析在1）NASH与单纯脂肪变性之间的差异，2）暴发性肝炎，3）干扰素治疗丙型肝炎病毒的效果方面的临床意义。1）NASH患者中-1031 C和-863 A位点多态性的携带频率显著高于单纯脂肪变性患者。影响TNF产生和胰岛素抵抗的TNF多态性可能与NAFLD的进展有关。2)同时携带IL-10单倍型和TNF-β基因B2/B2的患者，其携带率明显高于对照组。IL-10、TNF-β等细胞因子基因多态性的改变可能与FH的发病机制有关。3)TNF-β基因多态性中，无应答者B2/B2频率显著高于短暂应答者和持续应答者。血清型、肝纤维化程度及TNF-β基因多态性可能与联合治疗无效有关。

We investigated the clinical meaning of SNP analysis in 1) difference between NASH and simple steatosis, 2) fulminant hepatitis, 3) effect,of IFN therapy in hepatitis C virus.1) The carrier frequencies of polymorphisms at positions -1031 C and -863 A were significantly higher in patients with NASH than in those with simple steatosis. TNF polymorphisms, which influence TNF production and insulin resistance, might be associated with the progression of NAFLD. 2) The carrier rate with both IL-10 haplotype and TNF-β gene B2/B2 was significantly higher than control. Variations of cytokine polymorphisms including IL-10 and TNF-β genes may be attributable to the pathogenesis of FH. 3) In TNF-β gene polymorphism, B2/B2 frequency was significantly increased in non-responder, compared with transient responder and sustained responder. Serotype, liver fibrosis and TNF-β gene polymorphism might be associated with non-responders to the combined therapy.