原发性胆汁性胆管炎遗传易感性的研究现状

赵春梅; 马狄; 邰文琳

doi:10.12449/JCH240328

原发性胆汁性胆管炎遗传易感性的研究现状

DOI: 10.12449/JCH240328

昆明医科大学第二附属医院检验科，昆明 650032

基金项目:

国家自然科学基金 (82060385);

昆明医科大学2023年研究生创新基金 (2023S321)

利益冲突声明：本文不存在任何利益冲突。

作者贡献声明：赵春梅负责文献查找、阅读及文章撰写；马狄负责撰写框架的构建；邰文琳负责文章修改。

详细信息

通信作者:
邰文琳， taiwenlinlin@sohu.com （ORCID： 0000-0002-8278-929X）

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出版历程
- 收稿日期: 2023-06-27
- 录用日期: 2023-07-20
- 出版日期: 2024-03-20

Current status of research on the genetic susceptibility of primary biliary cholangitis

Department of Clinical Laboratory，The Second Affiliated Hospital of Kunming Medical University，Kunming 650032，China

Research funding:

National Natural Science Foundation of China (82060385);

Postgraduate Innovation Fund of Kunming Medical University in 2023 (2023S321)

More Information

Corresponding author: TAI Wenlin， taiwenlinlin@sohu.com （ORCID： 0000-0002-8278-929X）

摘要

摘要: 原发性胆汁性胆管炎（PBC）是一种以胆管上皮细胞变性坏死为主，好发于中老年女性，具有强烈的遗传倾向性的肝脏自身免疫性疾病。随着全基因组关联分析（GWAS）的不断发展，PBC的遗传易感性备受关注。本文阐述了与PBC密切相关的遗传易感基因的研究进展，以期为PBC治疗提供有效靶点。
- 原发性胆汁性胆管炎 /
- 疾病遗传易感性 /
- HLA抗原
Abstract: Primary biliary cholangitis （PBC） is a liver autoimmune disease with a strong genetic tendency characterized by the degeneration and necrosis of bile duct epithelial cells， and it is often observed in middle-aged and elderly women. With the continuous development of genome-wide association studies， the genetic susceptibility of PBC has attracted more and more attention. This article elaborates on the research advances in the genetic susceptibility genes closely associated with PBC， in order to provide effective targets for the treatment of PBC.
- Primary Biliary Cholangitis /
- Genetic Predisposition to Disease /
- HLA Antigens

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表 1 与中国PBC显著相关的易感位点

Table 1. Susceptible loci significantly associated with Chinese PBC

候选基因	基因位置	SNP	组合P值	比值比（95%可信区间）
HLA-DRA	6p21	rs9268644	2.41×10^-19	0.51（0.44～0.59）
HLA-DPB1	6p21	rs9501251	8.17×10^-13	1.94（1.61～2.33）
IL1RL1	2q12.1	rs12712133	5.19×10^-9	1.14（1.07～1.21）
IL-12A	3q25.33	rs485499	4.20×10^-2	1.20（1.01～1.44）
IL-12RB2	1p31.3	rs11209050	4.00×10^-4	1.27（1.11～1.44）
CXCR5	11q23.3	rs715412	1.30×10^-2	1.26（1.05～1.52）
DDX6，CXCR5	11q23.3	rs77871618	9.12×10^-14	1.55（1.38～1.74）
CCL20	2q36.3	rs4973341	2.34×10^-10	0.82（0.74～0.90）
TNFSF15，TNFSF8	9q32	rs4979467	8.28×10^-12	1.40（1.27～1.54）
TNFRSF1A	12p13.31	rs4149576	1.11×10^-5	1.35（1.18～1.55）
TNFAIP3	6q23.3	rs6933404	1.27×10^-10	1.18（1.09～1.27）
ORMDL3，GSDMB，IKZF3	17q12		5.58×10^-7	1.38^1）
SNRPGP8	2q36.3	rs4973341	2.34×10^-10	0.82（0.74～0.90）
ARID3A	19p13.3	rs2238571	5.24×10^-10	0.77^1）
FCRL3	1q32.1	rs117214467	8.55×10^-3
DNMT3A	3q24.2	rs6807549	1.37×10^-3
RARB	4q24	rs79109654	8.56×10^-5
TRIM14	10q11.23	rs76129863	4.83×10^-3
WDFY4	11p15.5	rs3216	8.17×10^-2
TMEM163	6q21	rs4134466	6.71×10^-7
RPL3，SYNGR1	22q13.1	rs137603	2.06×10^-7	0.68（0.59～0.79）
HELZ2	20q13.33	rs79267778	1.87×10^-4	4.20（1.67～10.58）
注：1）95%可信区间无法获取；SNP，单核苷酸多态性。

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