Results
| PMID | 15193490 |
| Gene Name | ESR2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | Erbeta (AluI and RsaI polymorphisms), Eralpha (XbaI and PvuII polymorphisms) |
| Population size | 314 |
| Population details | 314 (132 women affected with endometriosis, 182 controls) |
| Sex | Female |
| Associated genes | Eralpha, ERbeta |
| Other associated phenotypes |
Endometriosis |
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Fertil Steril. 2004 Jun;81(6):1650-6. Wang, Zhuo| Yoshida, Shigeki| Negoro, Kenichi| Kennedy, Stephen| Barlow, David| Maruo, Takeshi Department of Obstetrics and Gynecology, Kobe University Graduate School of Medicine, Kobe, Japan. OBJECTIVE: To determine whether polymorphisms in the estrogen receptor (ER) alpha and beta genes are associated with endometriosis in a Japanese population. DESIGN: Association study. SETTING: University 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. Mesh Terms: Asian Continental Ancestry Group/*genetics| Endometriosis/*genetics/pathology| Estrogen Receptor alpha| Estrogen Receptor beta| Female| Gene Frequency| Genetic Predisposition to Disease| Genotype| Humans| *Polymorphism, Genetic| Receptors, Estro |
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