Extremely skewed X-chromosome inactivation is increased in pre-eclampsia.

Uz E., Dolen I., Al A., Ozcelik T.

Human genetics, vol.121, pp.101-5, 2007 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 121
  • Publication Date: 2007
  • Doi Number: 10.1007/s00439-006-0281-3
  • Journal Name: Human genetics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.101-5
  • Bursa Uludag University Affiliated: Yes


Pre-eclampsia is a disorder that affects approximately 5% of pregnancies. We tested the hypothesis that skewed X-chromosome inactivation (XCI) could be involved in the pathogenesis of pre-eclampsia. Peripheral blood DNA was obtained from 67 pre-eclampsia patients and 130 control women. Androgen receptor (AR) was analyzed by the HpaII/polymerase chain reaction assay to assess XCI patterns in DNA extracted from peripheral-blood cells. In addition, buccal cells were obtained from seven patients, and the analysis repeated. Extremely skewed XCI was observed in 10 of 46 informative patients (21.74%), and in 2 of 86 informative controls (2.33%, P = 0.0005; chi(2) test). Our findings support a role for the X-chromosome in the pathogenesis of pre-eclampsia in a subgroup of patients.