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Hum. Reprod. Advance Access published online on October 27, 2009
Human Reproduction, doi:10.1093/humrep/dep375
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© The Author 2009. Published by Oxford University Press on behalf of the European Society of Human Reproduction and Embryology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

Estrogen receptor {alpha} gene polymorphisms in patients with idiopathic premature ovarian failure

Sang Ho Yoon1, Young Min Choi2,3,8, Min A. Hong2, Gyoung Hoon Lee4, Jin Ju Kim2, Hyoung June Im5, Eung Gi Min1, Byung Moon Kang6, Byung Koo Yoon7 and Shin Yong Moon2,3

1 Department of Obstetrics and Gynecology, Dongguk University Ilsan Hospital, Goyang, Republic of Korea 2 Department of Obstetrics and Gynecology, Seoul National University College of Medicine, Seoul, Republic of Korea 3 The Institute of Reproductive Medicine and Population, Medical Research Center, Seoul National University College of Medicine, Seoul, Republic of Korea 4 Department of Obstetrics and Gynecology, Seoul Medical Center, Seoul, Republic of Korea 5 Department of Occupational Medicine, Hallym University Sacred Heart Hospital, Anyang, Republic of Korea 6 Department of Obstetrics and Gynecology, College of Medicine, University of Ulsan, Asan Medical Center, Seoul, Republic of Korea 7 Department of Obstetrics and Gynecology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea

8 Correspondence address. Fax: +82-2-762-3599; E-mail: ymchoi{at}snu.ac.kr

BACKGROUND: It has been reported that polymorphisms in the estrogen receptor (ER)-{alpha} gene (ESR1) may be associated with reproductive patterns of women. This study was performed to investigate whether the genetic polymorphisms of the ER-{alpha} gene are associated with idiopathic premature ovarian failure (POF) in a Korean population.

METHODS: The subjects were 126 idiopathic POF patients and 221 post-menopausal controls recruited from university hospitals between 1999 and 2004. Genotyping was performed by MGB primer/probe Taqman assay. Haplotypes were deduced by using the Haploview version 4.1. Bonferroni correction was applied for the correction of multiple testing.

RESULTS: There was no significant difference in the allele distribution of the ER-{alpha} gene (TA)n repeats between the POF and the control group. For the PvuII polymorphism, the POF group showed a higher frequency of TT genotype compared with the controls (41.3 versus 26.3%, P = 0.004, 98.75% CI 1.8–28.2%). No significant difference was found in the distribution of the XbaI polymorphism between the POF and the control group. Haplotype analysis showed that the frequency of TA haplotype was significantly higher in the POF patients compared with the controls (64.7 versus 52.7%, P = 0.002, 98.75% CI 2.4–21.6%).

CONCLUSIONS: These findings suggest that the ER-{alpha} gene polymorphisms may be associated with idiopathic POF.

Key words: estrogen receptor {alpha}/polymorphism/premature ovarian failure

Submitted on April 17, 2009; resubmitted on September 29, 2009; accepted on September 29, 2009.


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