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 journalArticle

212 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)

Fingerprint Dive into the research topics of 'Frequency of monosomy X in women with primary biliary cirrhosis'. Together they form a unique fingerprint.

  • Cite this

    Invernizzi, P., Miozzo, M., Battezzati, P. M., Bianchi, I., Grati, F. R., Simoni, G., Selmi, C. F., Watnik, M., Gershwin, M. E., & Podda, M. (2004). Frequency of monosomy X in women with primary biliary cirrhosis. Lancet, 363(9408), 533-535.