The X-factor in primary biliary cirrhosis: Monosomy X and xenobiotics

Ilaria Bianchi, Ana Lleo, Francesca Bernuzzi, Lisa Caliari, Dan S. Smyk, Pietro Invernizzi

Research output: Contribution to journalArticlepeer-review

1 Scopus citations


Primary biliary cirrhosis (PBC) is a chronic, cholestatic, autoimmune liver disease characterised by the destruction of small- and medium-sized bile ducts. The serological hallmark of PBC includes antimitochondrial antibodies (AMA). The disease has a striking female predominance, and primarily affects women of middle-age. First-degree relatives, and in particular female relatives, are known to have an increased risk of developing the disease. Several studies have attempted to explain the female predominance of PBC, and autoimmune diseases in general. Two components that are of interest in PBC include monosomy X and xenobiotics. Monosomy X has been noted to be prevalent in the peripheral blood mononuclear cells of PBC patients. Xenobiotics, which are exogenous chemicals not normally found within the body, have been implicated in the modification of, and loss of, tolerance to AMA. Several cosmetics are known to contain these xenobiotics, which is of interest given the information provided in regards to known risk factors for PBC development. This review will focus on X monosomy and xenobiotics, which appear to constitute the X-factor of PBC.

Original languageEnglish (US)
Pages (from-to)127-132
Number of pages6
JournalAutoimmunity Highlights
Issue number3
StatePublished - Dec 2012


  • Autoimmune disease
  • Autoimmunity
  • Genetics
  • Monosomy X
  • Risk factor
  • Susceptibility
  • Xenobiotics

ASJC Scopus subject areas

  • Rheumatology
  • Immunology


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