TM6SF2 E167K Variant, a Novel Genetic Susceptibility Variant, Contributing to Nonalcoholic Fatty Liver Disease

Journal of Clinical and Translational Hepatology
Li-Zhen ChenShi-Ying Xuan

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.

Citations

Apr 15, 2017·Lipids in Health and Disease·Shuixian DuShiying Xuan
Oct 6, 2018·International Journal of Cancer. Journal International Du Cancer·Jie YangJean-Charles Nault
May 5, 2017·World Journal of Hepatology·George CholankerilSanjaya K Satapathy
Sep 10, 2016·World Journal of Gastroenterology : WJG·Ludovico AbenavoliAntonino De Lorenzo
Oct 3, 2018·Journal of Clinical and Translational Hepatology·Xiaoyu ZhangShiying Xuan
Sep 20, 2018·Canadian Journal of Gastroenterology & Hepatology·Ozlem KutluEbru Ozer
Jul 24, 2021·Digestive and Liver Disease : Official Journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver·Luca ValentiMassimo Colombo

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Methods Mentioned

BETA
confocal microscopy
biopsy
transgenic

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