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影响酒精性肝病发病的遗传学研究进展
引用本文:林秀贤,陈 丹,赵 青,陈 尧. 影响酒精性肝病发病的遗传学研究进展[J]. 金属学报, 2017, 22(11): 1309-1314
作者姓名:林秀贤  陈 丹  赵 青  陈 尧
作者单位:1.中南大学湘雅医院临床药理研究所,长沙 410000,湖南; ;2.中南大学临床药理研究所,湖南省遗传药理学重点实验室,长沙 410000,湖南
基金项目:国家科技计划(SQ2017ZX090361);国家自然科学基金(81302850);长沙市科技计划(kq1602014)
摘    要:酒精性肝病是由长期酗酒引起的肝功能损伤,对全球公众健康和社会发展造成严重威胁。但是,酒精性肝病的发病具有很大的个体差异。与酒精代谢酶、脂质储存、炎症反应和纤维化相关的基因多态性都可以影响酒精性肝病的发病风险。此外,近年来的全基因组关联研究,发现了PNPLA3 rs738409等在大部分人群中得到广泛验证的与酒精性肝病易感性相关的位点。这些研究,对于进一步了解疾病的发病机理及临床诊断和防治具有重要意义。本文将对最近几年与基因多态性及酒精性肝病易感性相关的遗传学研究做一综述。

关 键 词:酒精性肝病  易感性  基因多态性  PNPLA3  
收稿时间:2017-03-27
修稿时间:2017-09-12

Genetic research on the incidence of alcoholic liver disease
LIN Xiuxian,CHEN Dan,ZHAO Qing,CHEN Yao. Genetic research on the incidence of alcoholic liver disease[J]. Acta Metallurgica Sinica, 2017, 22(11): 1309-1314
Authors:LIN Xiuxian  CHEN Dan  ZHAO Qing  CHEN Yao
Affiliation:1. Department of Clinical Pharmacology, Xiangya Hospital, Central South University, Changsha 410000, Hunan, China;2. Institute of Clinical Pharmacology, Central South University, Hunan Key Laboratory of Pharmacogenetics, Changsha 410000, Hunan, China
Abstract:Alcoholic liver disease is the chronic liver injury caused by alcohol abuse, which is a serious threat to global public health and social development. However, the incidence of alcoholic liver disease has great individual differences. The genetic polymorphisms associated with alcohol metabolism enzyme, lipid storage, inflammatory response and fibrosis can affect the risk of alcoholic liver disease. In addition, recent genome-wide association studies have also found the PNPLA3 rs738409 and other SNPs which were proved to be associated with alcoholic liver disease susceptibility in different populations. These studies are of great significance to further understand the pathogenesis and clinical diagnosis, prevention and treatment of alcoholic liver disease. This article reviews the recent studies related to association between gene polymorphism and alcoholic liver disease susceptibility.
Keywords:alcoholic liver disease   susceptibility   genetic polymorphism   PNPLA3  
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