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Can Turner syndrome teach us about the pathogenesis of chronic cholestasis?
Author(s) -
Milkiewicz Piotr,
Heathcote Jenny
Publication year - 2004
Publication title -
hepatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 5.488
H-Index - 361
eISSN - 1527-3350
pISSN - 0270-9139
DOI - 10.1002/hep.20495
Subject(s) - haploinsufficiency , monosomy , primary biliary cirrhosis , medicine , cholestasis , pathogenesis , turner syndrome , x chromosome , aneuploidy , cirrhosis , gastroenterology , chromosome , immunology , endocrinology , gene , biology , genetics , karyotype , phenotype
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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