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.

Frequency of monosomy X in women with primary biliary cirrhosis / P. Invernizzi, M. Miozzo, P.M. Battezzati, I. Bianchi, F.R. Grati, G. Simoni, C. Selmi, M. Watnik, M.E. Gershwin, M. Podda. - In: THE LANCET. - ISSN 0140-6736. - 363:9408(2004), pp. 533-535. [10.1016/S0140-6736(04)15541-4]

Frequency of monosomy X in women with primary biliary cirrhosis

P. Invernizzi;M. Miozzo;P.M. Battezzati;F.R. Grati;G. Simoni;C. Selmi;M. Podda
2004

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.
Settore MED/09 - Medicina Interna
Settore MED/03 - Genetica Medica
2004
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2434/19971
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