Results
| PMID | 20857063 |
| Gene Name | ESR2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ERB gene + 1730 G/A polymorphism |
| Population size | 414 |
| Population details | 414 (136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls) |
| Sex | Female |
| Infertility type | Female infertility |
| Other associated phenotypes |
Infertility-associated endometriosis |
|
Arq Bras Endocrinol Metabol. 2010 Aug;54(6):567-71. Zulli, Karina| Bianco, Bianca| Mafra, Fernanda Abani| Teles, Juliana Souto| Christofolini, Denise Maria| Barbosa, Caio Parente Departamento de Ginecologia e Obstetricia, Santo Andre, SP, Brazil. OBJECTIVE: To determine the frequency of the estrogen receptor b gene (ERbeta) +1730 G/A polymorphism in infertile women with and without endometriosis and controls. SUBJECTS AND METHODS: Case-control study that included 136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls. The ERbeta gene + 1730 G/A polymorphism was identified by RFLP-PCR (Restriction Fragment Length Polymorphism - Polymerase Chain Reaction). RESULTS: Genotypes GG, GA and AA of the ERbeta gene presented frequencies of 60.3%, 38.2% and 1.5%, respectively, in the women with endometriosis (p < 0.0022). Of the infertile women without endometriosis, 63.8% presented the normal homozygous genotype GG, 30.4% the GA heterozygous genotype, and 5.8% the homozygous mutated genotype AA (p < 0.0275). In the control group, 77.5% presented the normal homozygous genotype GG, 21.1% the heterozygous genotype GA, and 1.4% the homozygous mutated genotype AA. CONCLUSION: The data suggest that the estrogen receptor beta gene (ERbeta) +1730 G/A polymorphism can be associated with risk of infertility and endometriosis-associated infertility. Mesh Terms: Adult| Alleles| Case-Control Studies| Chi-Square Distribution| Endometriosis/etiology/*genetics| Estrogen Receptor beta/*genetics| Female| Gene Frequency| Genotype| Humans| Infertility, Female/etiology/*genetics| Polymerase Chain Reaction| *Po |
|