The epigenetics of PBC: The link between genetic susceptibility and environment

Simona Marzorati, Ana Lleo, Marco Carbone, Merrill Eric Gershwin, Pietro Invernizzi

Research output: Contribution to journalShort surveypeer-review


Primary biliary cholangitis (PBC) previously known as primary biliary cirrhosis is an autoimmune disease-associated with progressive cholestasis, the presence of autoreactive T cell and characteristic serological autoantibodies. Genetic and genome-wide association studies (GWAS) have recently shed light on the genetic background of PBC. Besides that some causal nucleotide changes and mechanisms remain largely unknown as suggested for example, by the observation that monozygotic twins have an identical DNA sequence even if presents some phenotypic differences that may be consequences of different exposures to environmental stressors. For this reason, it is believed that epigenetic mechanisms may be involved in PBC pathogenesis, as already demonstrated in many autoimmune diseases and can eventually provide an understanding that has been missed from genetics alone. This review will focus on the most commonly studied epigenetic modifications already demonstrated in PBC; special attention will be paid also to other epigenetic mechanisms so far not demonstrated in PBC patients, but that could increase our understanding in PBC pathogenesis.

Original languageEnglish
Pages (from-to)650-659
Number of pages10
JournalClinics and Research in Hepatology and Gastroenterology
Issue number6
Publication statusPublished - Dec 1 2016

ASJC Scopus subject areas

  • Gastroenterology


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