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原发性胆汁性胆管炎的遗传学研究现状

李奕康 马雄 唐茹琦

临床肝胆病杂志2017,Vol.33Issue(11):2105-2111,7.
临床肝胆病杂志2017,Vol.33Issue(11):2105-2111,7.DOI:10.3969/j.issn.1001-5256.2017.11.011

原发性胆汁性胆管炎的遗传学研究现状

Advances in genetic research on primary biliary cholangitis

李奕康 1马雄 1唐茹琦1

作者信息

  • 1. 上海交通大学医学院附属仁济医院消化内科,上海市消化病研究所,上海200001
  • 折叠

摘要

Abstract

Primary biliary cholangitis (PBC) is an autoimmune liver disease with strong genetic susceptibility.The genome-wide association studies and immunochip studies conducted in recent years help to reveal the pathogenesis of PBC.The susceptibility genes of PBC are classified into human leukocyte antigen gene and non-human leukocyte antigen gene,and most of the susceptibility loci are associated with immune regulation,suggesting that disorders of the immune regulatory pathways may play an important role in the pathogenesis of PBC.In addition,the weighted genetic risk score of these candidate genes may predict the risk of PBC.At present,about one third of PBC patients have suboptimal response to ursodeoxycholic acid;therefore,targeted drugs for susceptibility genes may become an effective substitutive therapy.

关键词

胆管炎,胆汁性/胆汁淤积/疾病遗传易感性

Key words

cholangitis, biliary/cholestasis/genetic predisposition to disease

分类

医药卫生

引用本文复制引用

李奕康,马雄,唐茹琦..原发性胆汁性胆管炎的遗传学研究现状[J].临床肝胆病杂志,2017,33(11):2105-2111,7.

临床肝胆病杂志

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1001-5256

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