后GWAS时代的原发性胆汁性胆管炎的遗传学研究  

Genetic studies of primary biliary cholangitis in the post-GWAS era

作　　者：邱方 王婵 张明明[3] 史兴娟 刘向东[3] QIU Fang;WANG Chan;ZHANG Mingming;SHI Xingjuan;LIU Xiangdong(Department of Clinical Laboratory,The Fourth Affiliated Hospital of Nanjing Medical University,Nanjing 210031,China;Research Institute of Translational Medicine,Yangzhou University,Yangzhou,Jiangsu 225009,China;School of Life Science and Technology,Southeast University,Nanjing 210096,China)

机构地区：[1]南京医科大学第四附属医院检验科,南京210031 [2]扬州大学转化医学研究院,江苏扬州225009 [3]东南大学生命科学与技术学院,南京210096

出　　处：《临床肝胆病杂志》2022年第4期759-761,共3页Journal of Clinical Hepatology

基　　金：国家自然科学基金面上项目(81870397);江苏省自然科学基金面上项目(BK20201131)。

摘　　要：近二十年来随着临床对原发性胆汁性胆管炎(PBC)的认知不断提高和诊断方法的不断改进,PBC在全球的发病率和患病率呈上升趋势,已成为最常见的自身免疫性肝病。早期的家系调查结果表明PBC具有严重的遗传倾向,随后针对不同种群的PBC基因组学分析相继完成,已积累了大量的遗传学分析数据。今后PBC的遗传学研究重点将聚焦在如何将这些遗传学分析结果转化到临床实践中。With the constant increase in the awareness of primary biliary cholangitis(PBC)and the continuous improvement in related diagnostic methods in the past two decades,the incidence and prevalence rates of PBC tend to increase and PBC is now the most common autoimmune liver disease worldwide.A series of family-based studies in the early stage have shown that PBC has strong genetic tendency,and subsequent genomic analyses have been performed for PBC in different populations and have obtained a large amount of genetic data.Future genetic studies of PBC will focus on translating these results into clinical practice.

关 键 词：原发性胆汁性胆管炎 遗传学 全基因组关联研究 

分 类 号：R575.7[医药卫生—消化系统]