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

doi:10.1016/S0140-6736(04)15541-4

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

Rheumatology, Allergy, and Clinical Immunology

Research output: Contribution to journal › Article › peer-review

217 Scopus citations

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.

Original language	English (US)
Pages (from-to)	533-535
Number of pages	3
Journal	Lancet
Volume	363
Issue number	9408
DOIs	https://doi.org/10.1016/S0140-6736(04)15541-4
State	Published - Feb 14 2004

ASJC Scopus subject areas

Medicine(all)

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Frequency of monosomy X in women with primary biliary cirrhosis. / Invernizzi, Pietro; Miozzo, Monica; Battezzati, Pier Maria; Bianchi, Ilaria; Grati, Francesca R.; Simoni, Giuseppe; Selmi, Carlo F; Watnik, Mitchell; Gershwin, M. Eric; Podda, Mauro.

In: Lancet, Vol. 363, No. 9408, 14.02.2004, p. 533-535.

Research output: Contribution to journal › Article › peer-review

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title = "Frequency of monosomy X in women with primary biliary cirrhosis",

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.",

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AU - Invernizzi, Pietro

AU - Miozzo, Monica

AU - Battezzati, Pier Maria

AU - Bianchi, Ilaria

AU - Grati, Francesca R.

AU - Simoni, Giuseppe

AU - Selmi, Carlo F

AU - Watnik, Mitchell

AU - Gershwin, M. Eric

AU - Podda, Mauro

PY - 2004/2/14

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N2 - 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.

AB - 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.

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