自身免疫性肝炎遗传学研究进展  

Progress in genetics of autoimmune hepatitis

作　　者：魏怡然 马雄[1] 唐茹琦 

机构地区：[1]上海市消化疾病研究所上海交通大学医学院附属仁济医院消化科,上海200001

出　　处：《上海交通大学学报（医学版）》2017年第9期1286-1290,共5页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(81400608);上海市教育委员会高峰高原学科建设计划(20161311)~~

摘　　要：自身免疫性肝炎(AIH)是一种由异常自身免疫反应介导的慢性炎症性肝病。AIH确切的病因和发病机制尚不清楚,环境因素、遗传背景均可能参与AIH的发生和发展。近年来,AIH的遗传学研究越来越受到关注,多个AIH相关的基因已被报道。目前人类白细胞抗原(HLA)多态性位点是AIH最明确的遗传风险因子,且与疾病临床表型相关。全基因组关联分析发现了2个非HLA区域的遗传易感基因,即SH2B3和CARD10。AIH遗传学研究有助于进一步揭示AIH的遗传发病机制。Autoimmune hepatitis （AIH） is an autoimmune liver disorder characterized by chronic inflammation of liver. Although the etiology of AIH remains obscure, genetic and environmental factors may contribute to the development of AIH. In the past years, investigators have attempted to uncover the genetic architecture of AIH. Multiple genetic loci have been reported to be associated with AIH, in which human leukocyte antigen （HLA） alleles were strongly associated with disease onset and clinical manifestations for decades. A recent genome wide association study identified that two loci （SH2B3 and CARDIO） increased susceptibility of AIH, in addition to the HLA loci. The genetic study is aiming to help to elucidate the genetic pathogenesis for AIH.

关 键 词：自身免疫性肝炎 人类白细胞抗原 全基因组关联分析 

分 类 号：R575.1[医药卫生—消化系统]