Polymorphisms in the estrogen receptor β gene but not estrogen receptor α gene affect the risk of developing endometriosis in a Japanese population

Wang Z, Zhuo Wang, Shigeki Yoshida, Yoshida S, Negoro K, Kenichi Negoro, Stephen Kennedy, Kennedy S, David H. Barlow, David Barlow, Barlow D, Takeshi Maruo, Maruo T
Fertility and Sterility · 2004 · vol. 81(6) , pp. 1650–1656 · doi:10.1016/j.fertnstert.2004.02.094 · PMID:15193490 · W1972970082
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Polymorphisms in the estrogen receptor beta gene, but not the estrogen receptor alpha gene, were found to influence the risk of developing endometriosis in a Japanese population.

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Abstract

ObjectiveTo determine whether polymorphisms in the estrogen receptor (ER) alpha and beta genes are associated with endometriosis in a Japanese population.DesignAssociation study.SettingUniversity hospital.Patient(s)Japanese women diagnosed with endometriosis by laparotomy or laparoscopy.Intervention(s)Determination of polymorphisms in the ERalpha and ERbeta genes was performed by polymerase chain reaction restriction fragment-length polymorphism analysis in 132 affected women and 182 controls.Main outcome measure(s)Frequency and distribution of AluI and RsaI polymorphisms in ERbeta gene and of PvuII and XbaI polymorphisms in ERalpha gene.Result(s)No significant differences in the frequency of either AluI and RsaI polymorphisms in the ERbeta gene or of XbaI and PvuII polymorphisms in the ERalpha gene were found between endometriosis patients and controls. However, a positive association was noted between the AluI polymorphism in the ERbeta gene and stage IV endometriosis patients in the population studied.Conclusion(s)The AluI polymorphism in the ERbeta gene is associated with an increased risk of stage IV endometriosis in a Japanese population.

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Condition tags

endometriosis

MeSH descriptors

Asian People Endometriosis Polymorphism, Genetic Receptors, Estrogen Asian People Endometriosis Endometriosis Estrogen Receptor alpha Estrogen Receptor beta Female Gene Frequency Genetic Predisposition to Disease Genotype Humans Receptors, Estrogen

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