后GWAS时代的原发性胆汁性胆管炎的遗传学研究

邱方; 王婵; 张明明; 史兴娟; 刘向东

doi:10.3969/j.issn.1001-5256.2022.04.005

后GWAS时代的原发性胆汁性胆管炎的遗传学研究

DOI: 10.3969/j.issn.1001-5256.2022.04.005

邱方¹,
王婵²,
张明明³,
史兴娟³,
刘向东^3, , ,

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

基金项目:

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)

利益冲突声明：所有作者均声明不存在利益冲突。

作者贡献声明：邱方、王婵、张明明负责完成初稿撰写；史兴娟负责初稿的修订；刘向东负责文章的思路、审核及定稿。

详细信息

通信作者:
刘向东，xiangdongliu@seu.edu.cn

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出版历程
- 收稿日期: 2022-01-05
- 录用日期: 2022-02-08
- 出版日期: 2022-04-20

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

1.
Department of Clinical Laboratory, The Fourth Affiliated Hospital of Nanjing Medical University, Nanjing 210031, China
2.
Research Institute of Translational Medicine, Yangzhou University, Yangzhou, Jiangsu 225009, China
3.
School of Life Science and Technology, Southeast University, Nanjing 210096, China

Research funding:

General Project of National Natural Science Foundation of China (81870397);

General Project of Natural Science Foundation of Jiangsu Province (BK20201131)

More Information

Corresponding author: LIU Xiangdong, xiangdongliu@seu.edu.cn(ORCID: 0000-0001-6208-4818)

摘要

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。
- 原发性胆汁性胆管炎 /
- 遗传学 /
- 全基因组关联研究
Abstract: 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.
- Primary Biliary Cholangitis /
- Genetics /
- Genome-Wide Association Study

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参考文献(21)

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