Journal of Clinical and Translational Hepatology

Journal of Clinical and Translational Hepatology

Sunday, 12 / 16 / 2018

Articles

The Genetics of Clinical Liver Diseases: Insight into the TM6SF2 E167K Variant

REVIEW ARTICLE

The Genetics of Clinical Liver Diseases: Insight into the TM6SF2 E167K Variant

Xiaoyu Zhang#,1,3, Shousheng Liu#,4,5, Quanjiang Dong3,5, Yongning Xin*,1,2,3,4 and Shiying Xuan*,13,4

1Department of Gastroenterology, Taishan Medical University, Taian, China
2Department of Infectious Disease, Qingdao Municipal Hospital, Qingdao, China
3Department of Gastroenterology, Qingdao Municipal Hospital, Qingdao, China
4Digestive Disease Key Laboratory of Qingdao, Qingdao, China
5Central Laboratories, Qingdao Municipal Hospital, Qingdao, China
#These authors contributed equally to this work.

*Correspondence to: Shiying Xuan, Department of Gastroenterology, Qingdao Municipal Hospital, 1 Jiaozhou Road, Qingdao, Shandong 266011, China. Tel: +86-532-88905508, Fax: +86-532-88905293, E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it. ; Yongning Xin, Department of Infectious Disease, Qingdao Municipal Hospital, 1 Jiaozhou Road, Qingdao, Shandong 266011, China. Tel: +86-532-82789463, Fax: +86-532-85968434, E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

Journal of Clinical and Translational Hepatology 2018;6(3):326-331 DOI: 10.14218/JCTH.2018.00022
Received: April 1, 2018 Accepted: August 15, 2018 Published online: September 7, 2018

Abstract

The transmembrane 6 superfamily member 2 (TM6SF2) gene E167K variant (rs58542926) was identified by exome-wide association study as a nonsynonymous single nucleotide polymorphism associated with nonalcoholic fatty liver disease. The TM6SF2 E167K variant features a C-to-T substitution at nucleotide 499, encoding a glutamate with lysine change at codon 167 (E167K). TM6SF2 is markedly expressed in the liver, small intestine and kidney, and has been proposed as an important risk factor for diseases associated with lipid metabolism. Subsequently, multifunctional studies of the TM6SF2 E167K variant have been carried out in a spectrum of liver diseases, such as nonalcoholic fatty liver disease, nonalcoholic steatohepatitis, fibrosis, cirrhosis, and viral hepatitis. This review summarizes the research status of the TM6SF2 E167K variant in different liver diseases and specific populations, and discusses the potential mechanisms of the TM6SF2 E167K variant’s role in the progression of various liver diseases.

Keywords

TM6SF2, SNP, NAFLD, Fibrosis, Cirrhosis, Virus hepatitis

 

 

 

Journal of Clinical and Translational Hepatology 2018 vol. 6, 326-331  [ Html ] [ PDF Full-text ]

 

© The Authors 2018. This article is published under the terms of the Creative Commons Attribution-Noncommercial License (CC BY-NC 4.0), which permits use, distribution, and reproduction in any medium, provided the original work is properly cited, the use is non commercial and is otherwise in compliance with the license.

 

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