Results
| PMID | 21764500 |
| Gene Name | LHB |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | LHB G+1730A, ERB G+1730A |
| Population size | 487 |
| Population details | 201 infertile women with endometriosis, 80 infertile women without endometriosis, 206 fertile women as controls |
| Sex | Female |
| Infertility type | Female infertility |
| Associated genes | PR (PROGINS), ERB, LHB |
| Other associated phenotypes |
Endometriosis associated infertility |
|
Eur J Obstet Gynecol Reprod Biol. 2011 Oct;158(2):260-4. doi: Christofolini, Denise Maria| Vilarino, Fabia Lima| Mafra, Fernanda Abani| Andre, Gustavo Mendonca| Bianco, Bianca| Barbosa, Caio Parente Department of Gynecology and Obstetrics, Faculdade de Medicina do ABC, Santo Andre, SP, Brazil. OBJECTIVES: To determine whether the combination of PR (PROGINS), ERbeta G+1730A and/or LHbeta G1502A polymorphisms in infertile women with and without endometriosis and in a control group increases the risk of infertility and/or endometriosis. STUDY DESIGN: Case-control study including 201 infertile women with endometriosis, 80 infertile women without endometriosis and 206 fertile women as control group. PROGINS was identified by PCR (polymerase chain reaction) and ERbeta G+1730A and LHbeta G1502A were identified by PCR-RFLP (restriction fragment length polymorphism). RESULTS: A statistically significant difference was found for the combination of LHbeta+ERbeta polymorphisms among infertile patients with endometriosis and control group (p=0.003, OR=2.468), among infertile patients with endometriosis I/II and control group (p=0.002, OR=3.081), among infertile patients with endometriosis III/IV and control group (p=0.035, OR=2.136) and for the combination of LHbeta+PROGINS polymorphisms among infertile patients with endometriosis I/II and control group (p=0.014, OR=3.081). However, the odds of developing endometriosis are not enhanced in the presence of the two polymorphisms, being similar to the odds when only LH polymorphism is present. CONCLUSIONS: Individually, the presence of LHbeta G1502A and ERbeta G+1730A polymorphisms is associated with infertility and endometriosis associated infertility. However, when two polymorphisms are present in the same individual it does not appear to increase the chance of developing endometriosis or infertility. Mesh Terms: Adult| Case-Control Studies| Endometriosis/*genetics| Estrogen Receptor beta/*genetics| Female| Genetic Predisposition to Disease| Humans| Infertility, Female/*genetics| Luteinizing Hormone, beta Subunit/*genetics| Polymorphism, Genetic| Recepto |
|