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Updated: Jun 19, 2026

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Published on: February 21, 2014
+1730 G/A polymorphism of the estrogen receptor beta gene (ERbeta) may be an important genetic factor predisposing to
Bianca Bianco1, Denise Maria Christofolini, Fernanda Abani Mafra
1Division of Genetics and Human Reproduction - Department of Gynecology and Obstetrics, ABC Faculty of Medicine, Santo André, São 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.
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