title: Extremely skewed X-chromosome inactivation is increased in pre-eclampsia.
abstract: 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.
authors.affiliation: Department of Molecular Biology and Genetics, Bilkent University, Bilkent, Ankara 06800, Turkey.
authors.forename: Elif
authors.initials: E
authors.lastname: Uz
authors.forename: Ismail
authors.initials: I
authors.lastname: Dolen
authors.forename: Atakan R
authors.initials: AR
authors.lastname: Al
authors.forename: Tayfun
authors.initials: T
authors.lastname: Ozcelik
mesh_terms: D000328:Adult; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D008875:Middle Aged; D011225:Pre-Eclampsia / Q000235:genetics*; D011247:Pregnancy; D049951:X Chromosome Inactivation / Q000235:genetics*