Genetics and epigenetics of primary biliary cirrhosis

Ilaria Bianchi, Marco Carbone, Ana Lleo, Pietro Invernizzi

Research output: Contribution to journalArticlepeer-review

34 Scopus citations


Primary biliary cirrhosis (PBC) has been considered a multifactorial autoimmune disease presumably arising from a combination of environmental and genetic factors, with genetic inheritance mostly suggested by familial occurrence and high concordance rate among monozygotic twins. In the last decade, genome-wide association studies, new data on sex chromosome defects and instabilities, and initial evidence on the role of epigenetic abnormalities have strengthened the crucial importance of genetic and epigenetic factors in determining the susceptibility of PBC. High-throughput genetic studies in particular have revolutionized the search for genetic influences on PBC and have the potential to be translated into clinical and therapeutic applications, although more biological knowledge on candidate genes is now needed. In this review, these recent discoveries will be critically summarized with particular focus on the possible steps that may transfer genetic and epigenetic knowledge to direct health benefits in patients with PBC.

Original languageEnglish (US)
Pages (from-to)255-264
Number of pages10
JournalSeminars in Liver Disease
Issue number3
StatePublished - 2014


  • genome-wide association study
  • immune-related pathways
  • novel drugs
  • primary biliary cirrhosis
  • sex chromosomes

ASJC Scopus subject areas

  • Hepatology


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