Elsevier

The Lancet

Volume 363, Issue 9408, 14 February 2004, Pages 533-535
The Lancet

Research Letters
Frequency of monosomy X in women with primary biliary cirrhosis

https://doi.org/10.1016/S0140-6736(04)15541-4Get rights and content

Summary

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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