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- Title
Frequency of monosomy X in women with primary biliary cirrhosis.
- Authors
Invernizzi, Pietro; Miozzo, Monica; Battezzati, Pier Maria; Bianchi, Ilaria; Grati, Francesca R; Simoni, Giuseppe; Selmi, Carlo; Watnik, Mitchell; Gershwin, M Eric; Podda, Mauro
- Abstract
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.
- Publication
Lancet (London, England), 2004, Vol 363, Issue 9408, p533
- ISSN
1474-547X
- Publication type
Journal Article
- DOI
10.1016/S0140-6736(04)15541-4