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作者

Xiaoyu Zhang Shousheng Liu Quanjiang Dong Yongning Xin Shiying Xuan

作者单位

Department of Gastroenterology，Taishan Medical University，Taian，China；Department of Gastroenterology，Qingdao Municipal Hospital，Qingdao，China；Digestive Disease Key Laboratory of Qingdao，Qingdao，China；Central Laboratories，Qingdao Municipal Hospital，Qingdao，China；Department of Gastroenterology，Qingdao Municipal Hospital，Qingdao，China；Central Laboratories，Qingdao Municipal Hospital，Qingdao，China；Department of Gastroenterology，Taishan Medical University，Taian，China；Department of Infectious Disease，Qingdao Municipal Hospital，Qingdao，China；Department of Gastroenterology，Qingdao Municipal Hospital，Qingdao，China；Digestive Disease Key Laboratory of Qingdao，Qingdao，China；Department of Gastroenterology，Taishan Medical University，Taian，China；Department of Gastroenterology，Qingdao Municipal Hospital，Qingdao，China；Digestive Disease Key Laboratory of Qingdao，Qingdao，China

刊名

临床与转化肝病杂志(英文版)

年份

2018

卷号

第6卷

期号

第3期

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 (TM6SF2) gene E167K variant (rs58542926) was identified by exome-wide as-sociation study as a nonsynonymous single nucleotide poly-morphism 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 im-portant risk factor for diseas...更多

The transmembrane 6 superfamily member 2 (TM6SF2) gene E167K variant (rs58542926) was identified by exome-wide as-sociation study as a nonsynonymous single nucleotide poly-morphism 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 im-portant risk factor for diseases associated with lipid metabo-lism. Subsequently, multifunctional studies of the TM6SF2 E167K variant have been carried out in a spectrum of liver dis-eases, such as nonalcoholic fatty liver disease, nonalcoholic steatohepatitis, fibrosis, cirrhosis, and viral hepatitis. This re-view 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 var-iant's role in the progression of various liver diseases.收起

基金

国家自然科学基金

文献类型

期刊

浏览量

21