糖脂代谢基因在非酒精性脂肪性肝病中的研究进展

Advances in the research of genes related to glycolipid metabolism in the progression of non-alcoholic fatty liver disease

非酒精性脂肪性肝病(non-alcoholic fatty liver disease,NAFLD)是遗传-环境-代谢应激相关性疾病,包括单纯性脂肪肝(non-alcoholic simple fatty liver,NSFL)及由其演变的非酒精性脂肪性肝炎(non-alcoholic steatohepatitis,NASH)和肝硬化。本文旨在以NAFLD的遗传因素层面作为切入点,分别阐述与脂质代谢、胰岛素抵抗相关的基因变异在NAFLD进程中的研究现状,包括PNPLA3、TM6SF2、GCKR基因多态性的研究,以及p53、ADAMTS9在脂质代谢的调控作用,以期为实现NAFLD个体化治疗方案提供理论依据。

Non-alcoholic fatty liver disease (NAFLD) is a heredity,environmental,metabolic disease,and its spectrum ranges from non-alcoholic simple fatty liver (NSFL) to non-alcoholic steatohepatitis (NASH) and liver cirrhosis.It is a metabolic disease characterized by ectopic lipid accumulation and insulin resistance.The subject of this review is to discuss the status of research into important gene and genetic mutation of NAFLD progression,including PNPLA3,TM6SF2,GCKR,p53 and ADAMTS9,and to provide a theoretical basis for NAFLD personalized treatment program.