Results
| PMID | 16500359 |
| Gene Name | ESR1 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ERalpha (PvuII and XbaI) and ERbeta (AluI) |
| Population size | 61 |
| Population details | 61 women with endometriosis |
| Sex | Female |
| Associated genes | ERalpha |
| Other associated phenotypes |
Endometriosis |
|
Fertil Steril. 2006 Mar;85(3):764-6. Luisi, Stefano| Galleri, Letizia| Marini, Francesca| Ambrosini, Guido| Brandi, Maria Luisa| Petraglia, Felice Department of Pediatrics, Gynecology and Reproductive Medicine, University of Siena, Siena, Italy. The presence of gene polymorphisms of the estrogen receptors ERalpha (PvuII and XbaI) and ERbeta (AluI) in 61 women with endometriosis was investigated. A statistically significant correlation between PvuII ERalpha gene polymorphism (PvuII), both in homozygosity (PP) and in heterozygosity (Pp), and a recurrence of endometriosis was found. In conclusion, women affected by endometriosis with the ERalpha polymorphic allele, even if heterozygous, have a worse prognosis, and these results suggest that the ERalpha gene polymorphisms may be included among the genetic risk factors for endometriosis. Mesh Terms: Adult| Alleles| Case-Control Studies| Endometriosis/*genetics| Estrogen Receptor alpha/*genetics| Estrogen Receptor beta/genetics| Female| Gene Frequency| Genotype| Heterozygote| Homozygote| Humans| Middle Aged| *Polymorphism, Genetic| Progn |
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