title: The epigenetics of PBC: The link between genetic susceptibility and environment.
abstract: 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.
authors.affiliation: Liver Unit and Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Marzorati
authors.affiliation: Liver Unit and Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
authors.forename: Ana
authors.initials: A
authors.lastname: Lleo
authors.affiliation: Liver Unit and Center for Autoimmune Liver Diseases, Humanitas Clinical and Research Center, Rozzano, Milan, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Carbone
authors.affiliation: Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, CA, USA.
authors.forename: Merrill Eric
authors.initials: ME
authors.lastname: Gershwin
authors.affiliation: Division of Rheumatology, Allergy and Clinical Immunology, University of California, Davis, CA, USA; Program for Autoimmune Liver Diseases, Section of Digestive Diseases, International Center for Digestive Health, Department of Medicine and Surgery, University of Milan-Bicocca, Monza (MB), Italy. Electronic address: pietro.invernizzi@unimib.it.
authors.forename: Pietro
authors.initials: P
authors.lastname: Invernizzi
mesh_terms: D002843:Chromatin / Q000235:genetics; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D020022:Genetic Predisposition to Disease; D006657:Histones / Q000235:genetics; D006801:Humans; D008105:Liver Cirrhosis, Biliary / Q000235:genetics*; D034622:RNA Interference
chemical_list: D002843:Chromatin; D006657:Histones