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

被引：26

作者：

Chen, Li-Zhen ^{[1
]}

Xia, Harry Hua-Xiang ^{[2
]}

Xin, Yong-Ning ^{[1
]}

Lin, Zhong-Hua ^{[1
]}

Xuan, Shi-Ying ^{[1
]}

机构：

[1] Qingdao Univ, Sch Med, Qingdao Municipal Hosp, Dept Gastroenterol, 1 Jiaozhou Rd, Qingdao 266011, Shandong, Peoples R China

[2] Qingdao Univ, Sch Med, Qingdao Municipal Hosp, Qingdao, Shandong, Peoples R China

来源：

JOURNAL OF CLINICAL AND TRANSLATIONAL HEPATOLOGY | 2015年 / 3卷 / 04期

关键词：

Nonalcoholic fatty liver disease; TM6SF2; E167K variant; Polymorphism;

D O I：

10.14218/JCTH.2015.00023

中图分类号：

R57 [消化系及腹部疾病];

学科分类号：

摘要：

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. (C) 2015 The Second Affiliated Hospital of Chongqing Medical University. Published by XIA & HE Publishing Ltd. All rights reserved.

引用

页码：265 / 270

页数：6

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