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作者

Zhang, Xiaoyu Liu, Shousheng Dong, Quanjiang Xin, Yongning Xuan, Shiying

作者单位

Qingdao Municipal Hosp, Cent Labs, Qingdao, Shandong, Peoples R China Qingdao Municipal Hosp, Dept Gastroenterol, Digest Dis Key Lab Qingdao, Qingdao, Peoples R China Jiaozhou Rd, Qingdao 266011, Shandong, Peoples R China Qingdao Municipal Hosp, Dept Infect Dis, Taishan Med Univ, Dept Gastroenterol, Tai An, Shandong, Peoples R China

刊名

JOURNAL OF CLINICAL AND TRANSLATIONAL HEPATOLOGY

年份

2018

卷号

Vol.6 No.3

页码

326-331

ISSN

2225-0719

关键词

TM6SF2 SNP NAFLD Fibrosis Cirrhosis Virus hepatitis

摘要

The transmembrane 6 superfamily member 2 gene E167K variant 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 . 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 metab...更多

The transmembrane 6 superfamily member 2 gene E167K variant 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 . 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.收起

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