Polymorphism of the estrogen receptor β gene is related to infertility and infertility-associated endometriosis

Abstract

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. SUBJECTS AND 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. CONCLUSION: 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.

Associations between estrogen receptor-beta polymorphisms and endometriosis risk: a meta-analysis

“…Among these nine eligible studies, eight and four studies were pooled for analysis of the rs4986938 and rs1256049 polymorphisms, respectively. Regarding ethnicity, five studies assessed Asians [15-17,20,22] and four studies evaluated mixed ethnicities [18,19,21,23]. All of the included studies employed a case–control design and the genotype distributions among the controls of all studies were consistent with the HWE.…”

“…However, further subgroup analyses based on ethnicities demonstrated that the ER-β rs4986938 polymorphism was significantly associated with an increased risk of endometriosis in mixed populations (dominant model, OR = 2.03, 95% CI = 1.56–2.64; GA vs. GG, OR = 2.08, 95% CI = 1.59–2.71; A vs. G, OR = 1.72, 95% CI = 1.37–2.17; Table 2, Figure 2). Additionally, four studies (566 cases and 796 controls) [18,19,21,22] provided data between the rs4986938 polymorphism and risk of endometriosis-associated infertility. The subsequent subgroup analysis showed that the ER-β rs4986938 polymorphism was also significantly associated with an increased risk of endometriosis-associated infertility (dominant model, OR = 1.83, 95% CI = 1.26–2.67; recessive model, OR = 0.96, 95% CI = 0.34–2.72; AA vs. GG, OR = 1.23, 95% CI = 0.43–3.49; GA vs. GG, OR = 2.08, 95% CI = 1.59–2.71; A vs. G, OR = 1.72, 95% CI = 1.37–2.17; Figure 3).…”

“…Regarding the rs4986938 polymorphism, only four studies evaluated the effect of interactions, with three studies [18,19,21] providing complete data on genotype distribution in cases and controls and one [22] just presenting data on GG and GA + AA genotypes in cases and controls. Regarding the rs1256049 polymorphism, since only one study [23] for endometriosis-associated infertility was investigated and the sample size was small, subgroup analysis of endometriosis-associated infertility was not performed.…”

Importance of genital endometriosis in pathogenesis of infertility

“…Определено, что ERα имеют более высокую аф-финность к эстрогенам и являются доминирую-щей формой рецепторов в нормальном эндоме-трии. Поскольку большие количества мРНК ERβ обнаружены в яичниках и гранулезных клетках, считается, что ERβ играют роль преимуществен-ОБЗОРЫ ТО М L X I I В Ы П УС К 6 / 2 0 1 3 но в функции овуляции [62,82]. Обнаружено, что полиморфизм ERβ +1730 G/A связан как с бесплодием, так и с бесплодием, обусловлен-ным эндометриозом.…”

“…Обнаружено, что полиморфизм ERβ +1730 G/A связан как с бесплодием, так и с бесплодием, обусловлен-ным эндометриозом. Присутствие только одной копии полиморфного аллеля А повышает риск развития эндометриоза в 1,91 раза, а риск бес-плодия в 1,96 раза по сравнению с контрольной группой [82].…”