Estrogen receptor {alpha} gene polymorphisms in patients with idiopathic premature ovarian failure.
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.
Yoon
Sang Ho
SH
Department of Obstetrics and Gynecology, Dongguk University Ilsan Hospital, Goyang, Republic of Korea.
Choi
Young Min
YM
Hong
Min A
MA
Lee
Gyoung Hoon
GH
Kim
Jin Ju
JJ
Im
Hyoung June
HJ
Min
Eung Gi
EG
Kang
Byung Moon
BM
Yoon
Byung Koo
BK
Moon
Shin Yong
SY
D000328:Adult; D015331:Cohort Studies; D047628:Estrogen Receptor alpha / Q000235:genetics*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008875:Middle Aged; D011110:Polymorphism, Genetic; D016649:Primary Ovarian Insufficiency / Q000235:genetics*
D047628:Estrogen Receptor alpha