Results
| PMID | 19878085 |
| Gene Name | ESR2 |
| Condition | Endometriosis |
| Association |
Associated |
| Mutation | ERbeta (+1730 G/A polymorphism) |
| Population size | 318 |
| Population details | 318 (108 patients with endometriosis, control group consisting of 210 fertile women) |
| Sex | Female |
| Associated genes | ERbeta |
| Other associated phenotypes |
Endometriosis |
|
Acta Obstet Gynecol Scand. 2009;88(12):1397-401. doi: 10.3109/00016340903297168. Bianco, Bianca| Christofolini, Denise Maria| Mafra, Fernanda Abani| Brandes, Ariel| Zulli, Karina| Barbosa, Caio Parente Division of Genetics and Human Reproduction - Department of Gynecology and Obstetrics, ABC Faculty of Medicine, Santo Andre, Sao Paulo, Brazil. bianca.bianco@hotmail.com OBJECTIVE: To determine the frequency of the estrogen receptor gene (ERbeta) +1730 G/A polymorphism in Brazilian women with endometriosis. DESIGN: Case-control study. SETTING: Endometriosis Outpatient Clinic and Family Planning Outpatient Clinic of ABC Faculty of Medicine. POPULATION: A total of 108 patients with endometriosis and a control group consisting of 210 fertile women. METHODS: The ERbeta gene +1730 G/A polymorphism was identified by restriction fragment length polymorphism-polymerase chain reaction. MAIN OUTCOME MEASURE(S): Genotype distribution and allele frequency of the +1730 G/A polymorphism in the ERbeta gene. RESULTS: Genotypes GG, GA and AA of the ERbeta gene presented frequencies of 50.9%, 47.2% and 1.9%, respectively, in the women with endometriosis. Among the patients with stage I/II endometriosis, 47% presented the normal homozygous genotype GG; 51% had a GA heterozygous genotype and 2% had a homozygous mutated genotype AA. Among the patients with stage III/IV endometriosis, genotypes GG, GA and AA were present in 54.3%, 44% and 1.7%, respectively. In the control group, 74.3% presented the normal homozygous genotype GG, 24.3% the heterozygous genotype GA and 1.4% the homozygous mutated genotype AA. CONCLUSION: The data suggest that the ERbeta gene +1730 G/A polymorphism can be associated with the risk of endometriosis development, regardless of the stage of the disease. Mesh Terms: Adult| Case-Control Studies| DNA/chemistry/genetics| Endometriosis/*genetics| Estrogen Receptor beta/*genetics| Female| Genetic Predisposition to Disease| Genetic Variation| Genotype| Humans| Polymerase Chain Reaction| Polymorphism, Restriction |
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