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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

引用本文:
Citation:

原发性胆汁性胆管炎遗传易感性的研究现状

DOI: 10.12449/JCH240328
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)

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

Research funding: 

National Natural Science Foundation of China (82060385);

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

More Information
  • 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。

     

  • 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 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 1.381)
    SNRPGP8 2q36.3 rs4973341 2.34×10-10 0.82(0.74~0.90)
    ARID3A 19p13.3 rs2238571 5.24×10-10 0.771)
    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。
    下载: 导出CSV
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  • 收稿日期:  2023-06-27
  • 录用日期:  2023-07-20
  • 出版日期:  2024-03-20
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