原发性胆汁性胆管炎易感基因多态性的研究现状  

Polymorphisms of Susceptibility Genes in Primary Biliary Cholangitis

作　　者：高琪 张华 GAO Qi;ZHANG Hua(Zunyi Medical University,Zunyi,Guizhou,China,563000;Department of Clinical Laboratory,Guizhou Provincial People􀆳s Hospital,Guiyang,Guizhou,China,550000)

机构地区：[1]遵义医科大学,贵州遵义563000 [2]贵州省人民医院检验科,贵州贵阳550000

出　　处：《分子诊断与治疗杂志》2020年第1期118-122,共5页Journal of Molecular Diagnostics and Therapy

基　　金：贵州省人民医院国家自然科学基金培育基金项目(黔科合LH字[2017]5724号)

摘　　要：原发性胆汁性胆管炎(PBC)是一种慢性进行性肝内胆汁淤积的自身免疫性疾病,临床特点以大量抗线粒体抗体(AMA)的产生和胆管上皮细胞的损伤为特征。PBC的病因和发病机制尚未完全明确,可能与遗传和环境等相互作用所导致的异常自身免疫反应有关。PBC的家族聚集性、女性患病率明显高于男性以及同卵双胞胎患病的高度一致性,均提示了遗传易感性在PBC的发生和发展中起着重要的作用。全基因组关联分析(GWAS)以及病例对照研究已经鉴定出与PBC相关的各种人类白细胞抗原(HLA)和非HLA等位基因,并证实了PBC的种族差异性。本文综述了可能与PBC相关的易感基因多态性的研究现状。Primary biliary cholangitis(PBC)is an autoimmune disease with chronic progressive intrahepatic cholestasis.The clinical features are characterized by the production of large amounts of antimitochondrial antibodies(AMA)and the damage of bile duct epithelial cells.The etiology and pathogenesis of PBC have not been fully clarified,and may be related to the abnormal autoimmune response caused by genetic and environmental interactions.The family aggregation of PBC,the prevalence of women are significantly.The family aggregation and female prevalence of PBC were significantly higher than that of males and identical twins,suggesting that genetic susceptibility plays an important role in the occurrence and development of PBC.Genome⁃wide association analysis(GWAS)and case⁃control studies had identified various human leukocyte antigen(HLA)and non⁃HLA alleles associated with PBC and confirmed their ethnic differences.This article reviews the progress of polymorphisms of susceptibility gene in primary biliary cholangitis.

关 键 词：原发性胆汁性胆管炎 遗传易感性 全基因组关联分析 单核苷酸多态性 HLA和非HLA等位基因 

分 类 号：R575.7[医药卫生—消化系统]