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.
|Titolo:||Frequency of monosomy X in women with primary biliary cirrhosis|
|Settore Scientifico Disciplinare:||Settore MED/09 - Medicina Interna|
Settore MED/03 - Genetica Medica
|Data di pubblicazione:||2004|
|Digital Object Identifier (DOI):||10.1016/S0140-6736(04)15541-4|
|Appare nelle tipologie:||01 - Articolo su periodico|