Hum. Reprod. Advance Access originally published online on January 8, 2008
Human Reproduction 2008 23(3):688-692; doi:10.1093/humrep/dem415
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X chromosome inactivation patterns in patients with idiopathic premature ovarian failure
1 Department of Obstetrics and Gynecology, Dongguk University International Hospital, Goyang, South Korea 2 Department of Obstetrics and Gynecology, Seoul National University College of Medicine, 28 Yungun-dong, Chongno-ku, Seoul 110-744, South Korea 3 The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, South Korea 4 Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, South Korea
5 Correspondence address. Fax: +82-2-762-3599; E-mail: ymchoi{at}snu.ac.kr
BACKGROUND: X chromosome aberrations have been reported as the cause of extremely skewed X chromosome inactivation (XCI). The purpose of this study was to investigate whether skewed XCI is associated with idiopathic premature ovarian failure (POF).
METHODS: The XCI status was evaluated in Korean women by the methylation assay of androgen receptor locus in 126 idiopathic POF patients (35.3 ± 13.9 years old, mean ± SD) and 126 age-matched controls (35.2 ± 13.9 years). The incidence of skewed XCI in POF group was compared with that of control. The correlation between age and skewed XCI was also evaluated within both groups.
RESULTS: The incidence of extremely skewed XCI (
90%) was 3.9 versus 2.7% (P = 0.710) in POF and control group, respectively. No significant differences were found in the incidence of skewed XCI on all three levels (90, 80 and 70%) compared between these two groups. The calculation of correlation coefficients showed that, in both POF and control group, there were no significant correlations between age and XCI ratio. Neither was there increasing tendency of skewed XCI according to the increase of age in both groups. Furthermore, there were no significant differences when the XCI ratios were analysed according to the age of onset of ovarian failure.
CONCLUSIONS: The incidence of skewed XCI in Korean POF population was not significantly different from control, implying that skewed XCI may not be associated with idiopathic POF. There were also no significant correlations between age and skewed X-inactivation patterns in both groups.
Key words: androgen receptor gene/methylation-specific PCR/premature ovarian failure/skewed X chromosome inactivation
Submitted on August 16, 2007; resubmitted on November 25, 2007; accepted on December 9, 2007.