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

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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; χ2 test). Our findings support a role for the X-chromosome in the pathogenesis of pre-eclampsia in a subgroup of patients.

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We would like to thank Margaret Sands and Iclal Ozcelik for critical reading of the manuscript, and Sevgi Bagislar for technical help. Supported by grants from the Scientific and Technical Research Council of Turkey—TUBITAK-SBAG 3334, International Centre for Genetic Engineering and Biotechnology—ICGEB-CRP/TUR04-01, and Bilkent University Research Fund (to Dr. Ozcelik).

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Correspondence to Tayfun Ozcelik.

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Uz, E., Dolen, I., Al, A.R. et al. Extremely skewed X-chromosome inactivation is increased in pre-eclampsia. Hum Genet 121, 101–105 (2007). https://doi.org/10.1007/s00439-006-0281-3

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  • Androgen Receptor
  • Premature Ovarian Failure
  • Recurrent Spontaneous Abortion
  • HELLP Syndrome
  • Buccal Cell