Genes and (auto)immunity in primary biliary cirrhosis

C. Selmi, P. Invernizzi, M. Zuin, M. Podda, M. F. Seldin, M. E. Gershwin

Research output: Contribution to journalArticlepeer-review


Primary biliary cirrhosis (PBC) is a chronic autoimmune cholestatic liver disease most commonly encountered in postmenopausal women; it is characterized by high-titer serum autoantibodies to mitochondrial antigens, elevated serum IgM, progressive destruction of intrahepatic bile ducts, and ultimately liver cirrhosis and failure. The cytopathic mechanisms leading to the selective destruction of intrahepatic cholangiocytes are still largely unknown. The current theory on the pathogenesis of PBC indicated that environmental factors might trigger autoimmunity in genetically susceptible individuals. In fact, genetic predisposition is critical to disease onset and progression, yet peculiar among autoimmune diseases, as indicated by the lack of a strong association with major histocompatibility complex haplotypes. Further, the recently reported concordance rate among monozygotic twins strenghtens the importance of genetic factors, while also indicating that additional factors, possibly infectious agents or xenobiotics, intervene to trigger the disease. In this review, the available data regarding the genetic factors associated with PBC susceptibils and progression, as well as the available evidence regarding the immunomediated pathogenesis of PBC, will be critically illustrated and discussed.

Original languageEnglish
Pages (from-to)543-556
Number of pages14
JournalGenes and Immunity
Issue number7
Publication statusPublished - Oct 2005


  • Association study
  • Autoimmune cholangitis
  • Complex disease
  • Environmental factors
  • Pathogenesis

ASJC Scopus subject areas

  • Genetics(clinical)
  • Immunology
  • Genetics


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