TY - JOUR
T1 - Frequency of monosomy X in women with primary biliary cirrhosis
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
Y1 - 2004/2/14
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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U2 - 10.1016/S0140-6736(04)15541-4
DO - 10.1016/S0140-6736(04)15541-4
M3 - Article
C2 - 14975617
AN - SCOPUS:10744229779
VL - 363
SP - 533
EP - 535
JO - The Lancet
JF - The Lancet
SN - 0140-6736
IS - 9408
ER -