中国肝脏病杂志(电子版)

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跨膜6超家族成员2 E167K基因多态性与肝脏疾病的相关性

作者：李昌飞 1 2 杜水仙 1 2 谷九莲 1 2 苗英霞 1 2 辛永宁 2

单位：1.青岛大学医学院山东青岛 266021 2.青岛市市立医院消化内二科山东青岛 266011

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出版年,卷(期):页码：2017,9(3):13-17

摘要：

摘要：随着全基因组关联分析技术的发展，国内外大量研究发现，跨膜6超家族成员2
（transmembrane 6 superfamily member 2，TM6SF2）基因在肝脏脂质代谢中具有潜在作用。目前有研
究表明，TM6SF2 E167K基因多态性与NAFLD，酒精性肝病以及CHC相关肝脏炎症、肝硬化甚至肝
细胞癌的发生有关。本文就TM6SF2在人体内的表达及其基因多态性在肝脏疾病中的研究现况进行综
述。

Abstract: With the development of genome-wide association analysis technology, it has been widely found
that transmembrane 6 superfamily member 2 (TM6SF2) gene plays a potiental role in lipid metabolism of
liver. Recently, some studies showed that gene polymorphism of TM6SF2 E167K was associated with the
occurrence and development of non-alcoholic fatty liver disease (NAFLD) and also associated with the liver
inflammation, cirrhosis and even hepatocellular carcinoma (HCC) related to alcoholic liver disease (ALD) and
chronic hepatitis C (CHC). This article described the expression of TM6SF2 in human tissues and reviewed
recent progress in understanding the role of TM6SF2 gene polymorphism in the pathogenesis of the above
three liver diseases.

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