The Genetics and Epigenetics of Primary Biliary Cholangitis

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13 Scopus citations


Both genetic background and environmental factors contribute to primary biliary cholangitis (PBC). Recent innovative technologies, such as genome-wide association studies, identified a remarkable number of susceptible nonhuman leukocyte antigen genes contributing to the development of PBC; however, they are primarily indicators of active immunologic responses commonly involved in autoimmune reactions. Thus, recent studies have focused on epigenetic mechanisms that would link genetic predisposition and environmental triggering factors. In PBC, methylation profiling and altered X chromosome architecture have been intensively explored in conjunction with a striking female predominance. Further, microRNAs have been found to be associated with the etiology of PBC.

Original languageEnglish (US)
Pages (from-to)443-455
Number of pages13
JournalClinics in Liver Disease
Issue number3
StatePublished - Aug 1 2018


  • Autoimmunity
  • Genome-wide association studies
  • Methylation
  • microRNA
  • X chromosome
  • X chromosome inactivation

ASJC Scopus subject areas

  • Hepatology


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