The Genetics of Clinical Liver Diseases: Insight into the TM6SF2 E167K Variant
The Genetics of Clinical Liver Diseases: Insight into the TM6SF2 E167K Variant作者机构：Department of GastroenterologyTaishan Medical UniversityTaianChina Department of Infectious DiseaseQingdao Municipal HospitalQingdaoChina Department of GastroenterologyQingdao Municipal HospitalQingdaoChina Digestive Disease Key Laboratory of QingdaoQingdaoChina Central LaboratoriesQingdao Municipal HospitalQingdaoChina
出 版 物：《Journal of Clinical and Translational Hepatology》 (临床与转化肝病杂志（英文版）)
年 卷 期：2018年第6卷第3期
页 面：326-331页
核心收录：
基 金：supported by grants from the National Natural Science Foundation of China(31770837) the Key Research Project of Shandong Province(2016GSF201217) the Qingdao,Shinan District Science and Technology Development Project Fund(2016-3-016-YY)
主 题：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 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.
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