Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis.
OBJECTIVE
To determine the frequency of the estrogen receptor b gene (ERβ) +1730 G/A polymorphism in infertile women with and without endometriosis and controls.


METHODS
Case-control study that included 136 women with endometriosis, 69 women without endometriosis and 209 fertile women as controls. The ERβ 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 ERβ 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.


CONCLUSIONS
The data suggest that the estrogen receptor β gene (ERβ) +1730 G/A polymorphism can be associated with risk of infertility and endometriosis-associated infertility.
Zulli
Karina
K
Departamento de Ginecologia e Obstetrícia, Santo André, SP, Brazil.
Bianco
Bianca
B
Mafra
Fernanda Abani
FA
Teles
Juliana Souto
JS
Christofolini
Denise Maria
DM
Barbosa
Caio Parente
CP
D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D004715:Endometriosis / Q000209:etiology / Q000235:genetics*; D047629:Estrogen Receptor beta / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007247:Infertility, Female / Q000209:etiology / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
D047629:Estrogen Receptor beta