Nonalcoholic fatty liver disease(NAFLD)is one of the most common causes of liver dysfunction worldwide,and its prevalence is highly associated with genetic susceptibility.The transmembrane 6 superfamily member 2(TM6SF...Nonalcoholic fatty liver disease(NAFLD)is one of the most common causes of liver dysfunction worldwide,and its prevalence is highly associated with genetic susceptibility.The transmembrane 6 superfamily member 2(TM6SF2)E167K variant represents a general genetic determinant of hepatic triglyceride content and lobular inflammation,and its presence appears to be directly involved in the pathogenesis and development of NAFLD.Although this variant appears to be a novel powerful modifier in the development of NAFLD,whether it is associated with an increased risk of NAFLD-refated liver fibrosis and hepatocellular carcinoma(HCC)remains to be determined.The aim of this review is to describe the functions of the TM6SF2 E167K variant and its association with NAFLD,with particular emphasis on the underlying mechanisms of its role in the development and progression of NAFLD.Additionally,the links between the TM6SF2 E167K variant and NAFLD-related liver fibrosis and HCC will be discussed.展开更多
基金This study was supported by Qingdao Livelihood,Science and Technology Project,China(14-2-3-17-nsh)Qingdao Key Health Discipline Development Fund.In addition,this project was supported by the Medjaden Academy & Research Foundation for Young Scientists(Grant MJA20150831)
文摘Nonalcoholic fatty liver disease(NAFLD)is one of the most common causes of liver dysfunction worldwide,and its prevalence is highly associated with genetic susceptibility.The transmembrane 6 superfamily member 2(TM6SF2)E167K variant represents a general genetic determinant of hepatic triglyceride content and lobular inflammation,and its presence appears to be directly involved in the pathogenesis and development of NAFLD.Although this variant appears to be a novel powerful modifier in the development of NAFLD,whether it is associated with an increased risk of NAFLD-refated liver fibrosis and hepatocellular carcinoma(HCC)remains to be determined.The aim of this review is to describe the functions of the TM6SF2 E167K variant and its association with NAFLD,with particular emphasis on the underlying mechanisms of its role in the development and progression of NAFLD.Additionally,the links between the TM6SF2 E167K variant and NAFLD-related liver fibrosis and HCC will be discussed.
