Results
| PMID | 21476192 |
| Gene Name | ESR2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ESR2 (RsaI polymorphism) |
| Population size | 100 |
| Population details | 100 (54 patients diagnosed with endometriosis, 46 controls) |
| Sex | Female |
| Associated genes | ERB |
| Other associated phenotypes |
Endometriosis |
|
Genet Mol Res. 2011 Mar 22;10(1):465-70. doi: 10.4238/vol10-1gmr940. Silva, R C P C| Costa, I R| Bordin, B M| Silva, C T X| Souza, S R| Junior, C L R| Frare, A B| Moura, K K V O Nucleo de Pesquisas Replicon, Pontificia Universidade Catolica de Goias, Goiania, GO, Brasil. ritagenetica@yahoo.com.br We examined the frequency of RsaI polymorphism of the ERbeta gene in 54 patients diagnosed with endometriosis and 46 controls. Peripheral blood was collected from women undergoing laparoscopy with a confirmed diagnosis of endometriosis. Polymorphisms of the ERbeta gene and p53 were assessed by PCR and analyzed on 2% agarose gel stained with ethidium bromide. The AG polymorphism genotype frequency in patients with endometriosis was 59.3%, with 40.7% GG. In the control group, the frequency of AG was 6.5%, with 93.5% GG. The frequency of heterozygous AG was nine times higher in patients with endometriosis than in the control group (P < 0.0001). Mesh Terms: Adult| Deoxyribonucleases, Type II Site-Specific/*metabolism| Endometriosis/enzymology/*genetics| Estrogen Receptor beta/*genetics/metabolism| Female| Humans| *Polymorphism, Genetic|DA 2011/08/04 06:00 |
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