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

Overview

Journal J Clin Transl Hepatol

Specialty Gastroenterology

Date 2018 Oct 2

PMID 30271746

Citations 5

Authors

Xiaoyu Zhang

Shousheng Liu

Quanjiang Dong

Yongning Xin

Shiying Xuan

Affiliations

Soon will be listed here.

Abstract

The transmembrane 6 superfamily member 2 () gene E167K variant (rs58542926) was identified by exome-wide association study as a nonsynonymous single nucleotide polymorphism associated with nonalcoholic fatty liver disease. The E167K variant features a C-to-T substitution at nucleotide 499, encoding a glutamate with lysine change at codon 167 (E167K). 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 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 E167K variant in different liver diseases and specific populations, and discusses the potential mechanisms of the E167K variant's role in the progression of various liver diseases.

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