+1730 G/A polymorphism of the estrogen receptor β gene (ERβ) may be an important genetic factor predisposing to endometriosis

Bianca Bianco, Denise Maria Christofolini, Fernanda Abani Mafra, Fernanda Mafra, A. Brandes, Ariel Brandes, Karina Zulli, Caio Parente Barbosa
Acta obstetricia et gynecologica Scandinavica · 2009 · vol. 88(12) , pp. 1397–1401 · doi:10.3109/00016340903297168 · PMID:19878085 · W2151991352
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This study found that the estrogen receptor beta gene +1730 G/A polymorphism is more frequent in Brazilian women with endometriosis compared to controls, suggesting a potential genetic predisposition.

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Abstract

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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Condition tags

mesh:D004715endometriosis

MeSH descriptors

Endometriosis Estrogen Receptor beta Adult Case-Control Studies DNA DNA DNA Endometriosis Estrogen Receptor beta Female Genetic Predisposition to Disease Genetic Variation Genotype Humans Polymerase Chain Reaction Polymorphism, Restriction Fragment Length Polymorphism, Single Nucleotide

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