Frequency of monosomy X in women with primary biliary cirrhosis

Pietro Invernizzi, Monica Miozzo, Pier Maria Battezzati, Ilaria Bianchi, Francesca R. Grati, Giuseppe Simoni, Carlo F Selmi, Mitchell Watnik, M. Eric Gershwin, Mauro Podda

Research output: Contribution to journalArticlepeer-review

223 Scopus citations


The mechanisms that cause the female predominance of primary biliary cirrhosis (PBC) are uncertain, but the X chromosome includes genes involved in immunological tolerance. We assessed the rate of X monosomy in peripheral white blood cells from 100 women with PBC, 50 with chronic hepatitis C, and 50 healthy controls, by fluorescence in-situ hybridisation. Frequency of X monosomy increased with age in all groups, but was significantly higher in women with PBC than in controls (p<0.0001); age-adjusted back-transformed mean frequencies were 0.050 (95% CI 0.046-0.055) in women with PBC, 0.032 (0.028-0.036) in those with chronic hepatitis C, and 0.028 (0.025-0.032) in controls. We suggest that haploinsufficiency for specific X-linked genes leads to female susceptibility to PBC.

Original languageEnglish (US)
Pages (from-to)533-535
Number of pages3
Issue number9408
StatePublished - Feb 14 2004

ASJC Scopus subject areas

  • Medicine(all)


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