The autoimmune nature of primary biliary cirrhosis (PBC) is well establishe
d. We tested the hypothesis that fetal microchimerism indicated by the pers
istence of circulating fetal cells in women years after pregnancy might con
tribute to the aetiopathogenesis of PBC through a graft-versus-host-like re
sponse. We extracted DNA from the peripheral blood cells of 36 women carefu
lly selected from 173 consecutive PBC patients, who were matched with 36 he
althy women by age, age of last son, and number of children. Both patients
and controls had to have male offspring, and no history of miscarriages or
blood transfusions; they could not be twins. We tested all of the samples f
or the presence of two specific Y-chromosome sequences (SY154 and SRY) by a
mplifying DNA in a nested polymerase chain reaction. Y-chromosome-specific
DNA was detected in the peripheral blood cell DNA of 13 (36%) of the 36 wom
en with PBC and in 11 (31%) of the 36 healthy controls. The two groups of P
BC patients with and without male DNA sequences were similar in terms of th
eir clinical, biochemical, and serological features. Y-chromosome sequences
were found in three of the four PBC women with associated systemic scleros
is. All of the 24 Y-positive samples contained SY154 sequences, but only th
ree PBC patients and six controls showed the presence of both SY154 and SRY
sequences. This discrepancy may suggest that not only fetal cells but also
fragments of fetal DNA are present in maternal circulation. Overall, our d
ata do not support the hypothesis that fetal microchimerism plays a signifi
cant role in the onset or progression of PBC.