title: TM6SF2 E167K Variant, a Novel Genetic Susceptibility Variant, Contributing to Nonalcoholic Fatty Liver Disease.
abstract: 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-related 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.
authors.affiliation: Department of Gastroenterology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, Shandong, China.
authors.forename: Li-Zhen
authors.initials: LZ
authors.lastname: Chen
authors.affiliation: Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, Shandong, China.
authors.forename: Harry Hua-Xiang
authors.initials: HH
authors.lastname: Xia
authors.affiliation: Department of Gastroenterology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, Shandong, China.
authors.forename: Yong-Ning
authors.initials: YN
authors.lastname: Xin
authors.affiliation: Department of Gastroenterology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, Shandong, China.
authors.forename: Zhong-Hua
authors.initials: ZH
authors.lastname: Lin
authors.affiliation: Department of Gastroenterology, Qingdao Municipal Hospital, School of Medicine, Qingdao University, Qingdao, Shandong, China.
authors.forename: Shi-Ying
authors.initials: SY
authors.lastname: Xuan
keywords: E167K variant; Nonalcoholic fatty liver disease; Polymorphism; TM6SF2