中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 38 Issue 4
Apr.  2022
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Article Contents

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

DOI: 10.3969/j.issn.1001-5256.2022.04.005
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)
  • Received Date: 2022-01-05
  • Accepted Date: 2022-02-08
  • Published Date: 2022-04-20
  • 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.

     

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  • [1]
    SELMI C, MAYO MJ, BACH N, et al. Primary biliary cirrhosis in monozygotic and dizygotic twins: genetics, epigenetics, and environment[J]. Gastroenterology, 2004, 127(2): 485-492. DOI: 10.1053/j.gastro.2004.05.005.
    [2]
    QIU F, TANG R, ZUO X, et al. A genome-wide association study identifies six novel risk loci for primary biliary cholangitis[J]. Nat Commun, 2017, 8: 14828. DOI: 10.1038/ncomms14828.
    [3]
    HIRSCHFIELD GM, LIU X, XU C, et al. Primary biliary cirrhosis associated with HLA, IL12A, and IL12RB2 variants[J]. N Engl J Med, 2009, 360(24): 2544-2555. DOI: 10.1056/NEJMoa0810440.
    [4]
    MELLS GF, FLOYD JA, MORLEY KI, et al. Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis[J]. Nat Genet, 2011, 43(4): 329-332. DOI: 10.1038/ng.789.
    [5]
    NAKAMURA M, NISHIDA N, KAWASHIMA M, et al. Genome-wide association study identifies TNFSF15 and POU2AF1 as susceptibility loci for primary biliary cirrhosis in the Japanese population[J]. Am J Hum Genet, 2012, 91(4): 721-728. DOI: 10.1016/j.ajhg.2012.08.010.
    [6]
    LIU X, INVERNIZZI P, LU Y, et al. Genome-wide meta-analyses identify three loci associated with primary biliary cirrhosis[J]. Nat Genet, 2010, 42(8): 658-660. DOI: 10.1038/ng.627.
    [7]
    CORDELL HJ, HAN Y, MELLS GF, et al. International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways[J]. Nat Commun, 2015, 6: 8019. DOI: 10.1038/ncomms9019.
    [8]
    ASSELTA R, PARABOSCHI EM, GERUSSI A, et al. X chromosome contribution to the genetic architecture of primary biliary cholangitis[J]. Gastroenterology, 2021, 160(7): 2483-2495.e26. DOI: 10.1053/j.gastro.2021.02.061.
    [9]
    CORDELL H J, FRYETT J J, UENO K, et al. An international genome-wide meta-analysis of primary biliary cholangitis: Novel risk loci and candidate drugs[J]. J Hepatol, 2021, 75(3): 572-81. DOI: 10.1016/j.jhep.2021.04.055.
    [10]
    INVERNIZZI P, SELMI C, POLI F, et al. Human leukocyte antigen polymorphisms in Italian primary biliary cirrhosis: A multicenter study of 664 patients and 1992 healthy controls[J]. Hepatology, 2008, 48(6): 1906-1912. DOI: 10.1002/hep.22567.
    [11]
    DONALDSON PT, BARAGIOTTA A, HENEGHAN MA, et al. HLA class Ⅱ alleles, genotypes, haplotypes, and amino acids in primary biliary cirrhosis: A large-scale study[J]. Hepatology, 2006, 44(3): 667-674. DOI: 10.1002/hep.21316.
    [12]
    JURAN BD, HIRSCHFIELD GM, INVERNIZZI P, et al. Immunochip analyses identify a novel risk locus for primary biliary cirrhosis at 13q14, multiple independent associations at four established risk loci and epistasis between 1p31 and 7q32 risk variants[J]. Hum Mol Genet, 2012, 21(23): 5209-5221. DOI: 10.1093/hmg/dds359.
    [13]
    ONISHI S, SAKAMAKI T, MAEDA T, et al. DNA typing of HLA class Ⅱ genes; DRB1*0803 increases the susceptibility of Japanese to primary biliary cirrhosis[J]. J Hepatol, 1994, 21(6): 1053-1060. DOI: 10.1016/s0168-8278(05)80617-8.
    [14]
    WANG C, ZHENG X, TANG R, et al. Fine mapping of the MHC region identifies major independent variants associated with Han Chinese primary biliary cholangitis[J]. J Autoimmun, 2020, 107: 102372. DOI: 10.1016/j.jaut.2019.102372.
    [15]
    DONG M, LI J, TANG R, et al. Multiple genetic variants associated with primary biliary cirrhosis in a Han Chinese population[J]. Clin Rev Allergy Immunol, 2015, 48(2-3): 316-321. DOI: 10.1007/s12016-015-8472-0.
    [16]
    WANG L, LI J, WANG C, et al. Mapping of de novo mutations in primary biliary cholangitis to a disease-specific co-expression network underlying homeostasis and metabolism[J]. J Genet Genomics, 2021. DOI: 10.1016/j.jgg.2021.07.019.
    [17]
    WANG C, ZHENG X, JIANG P, et al. Genome-wide association studies of specific antinuclear autoantibody subphenotypes in primary biliary cholangitis[J]. Hepatology, 2019, 70(1): 294-307. DOI: 10.1002/hep.30604.
    [18]
    HIRSCHFIELD GM, GERSHWIN ME, STRAUSS R, et al. Ustekinumab for patients with primary biliary cholangitis who have an inadequate response to ursodeoxycholic acid: A proof-of-concept study[J]. Hepatology, 2016, 64(1): 189-199. DOI: 10.1002/hep.28359.
    [19]
    BOWLUS CL, YANG GX, LIU CH, et al. Therapeutic trials of biologics in primary biliary cholangitis: An open label study of abatacept and review of the literature[J]. J Autoimmun, 2019, 101: 26-34. DOI: 10.1016/j.jaut.2019.04.005.
    [20]
    SHAH RA, KOWDLEY KV. Current and potential treatments for primary biliary cholangitis[J]. Lancet Gastroenterol Hepatol, 2020, 5(3): 306-315. DOI: 10.1016/S2468-1253(19)30343-7.
    [21]
    MORITOKI Y, TSUNEYAMA K, NAKAMURA Y, et al. Anti-drug antibodies against a novel humanized anti-CD20 antibody impair its therapeutic effect on primary biliary cholangitis in human CD20- and FcγR-expressing mice[J]. Front Immunol, 2018, 9: 2534. DOI: 10.3389/fimmu.2018.02534.
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