Abstract
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.
| Original language | English (US) |
|---|---|
| Pages (from-to) | 533-535 |
| Number of pages | 3 |
| Journal | Lancet |
| Volume | 363 |
| Issue number | 9408 |
| DOIs | |
| State | Published - Feb 14 2004 |
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ASJC Scopus subject areas
- Medicine(all)
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Frequency of monosomy X in women with primary biliary cirrhosis. / Invernizzi, Pietro; Miozzo, Monica; Battezzati, Pier Maria; Bianchi, Ilaria; Grati, Francesca R.; Simoni, Giuseppe; Selmi, Carlo; Watnik, Mitchell; Gershwin, M. Eric; Podda, Mauro.
In: Lancet, Vol. 363, No. 9408, 14.02.2004, p. 533-535.Research output: Contribution to journal › Article
}
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
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.
UR - http://www.scopus.com/inward/record.url?scp=10744229779&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=10744229779&partnerID=8YFLogxK
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 -