Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?

✍ Scribed by Piotr Milkiewicz; Jenny Heathcote

• Publisher: John Wiley and Sons
• Year: 2004
• Tongue: English
• Weight: 70 KB
• Volume: 40
• Category: Article
• ISSN: 0270-9139
• DOI: 10.1002/hep.20495

✦ Synopsis

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); ageadjusted 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.