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

Bianco, Bianca; Christofolini, Denise Maria; Mafra, Fernanda; Brandes, Ariel; Zulli, Karina; Barbosa, Caio Parente

doi:10.3109/00016340903297168

Cited by 22 publications

(21 citation statements)

References 30 publications

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“…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.…”

Section: Resultsmentioning

confidence: 99%

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

et al. 2014

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BackgroundMany epidemiological studies have suggested an association between estrogen receptor-beta (ER-β) polymorphisms with endometriosis risk. However, the results of these studies have been inconsistent. In the present study, we performed a meta-analysis to clarify the associations between the ER-β rs4986938 and rs1256049 polymorphisms and endometriosis risk.MethodsEligible publications were retrieved from the PubMed, ISI Web of Science, and several Chinese language databases. Pooled odds ratios (ORs) with 95% confidence intervals (CIs) were calculated using a random or fixed effect model.ResultsA total of eight studies (1100 cases/1485 controls) for the rs4986938 polymorphism and four studies (353 cases/450 controls) for the rs1256049 polymorphism were included in this meta-analysis. Regarding the rs4986938 polymorphism, no obvious associations were found for all genetic models when all studies were pooled into the meta-analysis. In the subgroup analyses by ethnicity, study sample size, endometriosis-associated infertility, and stage of endometriosis, a significantly increased risk was observed among mixed populations (dominant model, OR = 2.03, 95% CI = 1.56–2.64) and among cases with endometriosis-associated infertility (dominant model, OR = 1.83, 95% CI = 1.26–2.67). Regarding the rs1256049 polymorphism, no obvious associations were found for all genetic models in the overall population. Subgroup analyses by ethnicity and study sample size revealed that only one study of a mixed population with small sample size showed an increased risk of endometriosis. No publication bias was found in the present study.ConclusionsThe results of this meta-analysis suggest that the ER-β rs4986938 and rs1256049 polymorphisms may not be associated with endometriosis risk, while the observed increased risk of endometriosis-associated infertility may be due to bias by the inclusion of small-scale studies.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/13000_2014_184

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Section: Resultsmentioning

confidence: 99%

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

et al. 2014

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“…Susceptibility to endometriosis depends on a complex interaction of immunologic, genetic, and hormonal factors [2,3].…”

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confidence: 99%

Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis

et al. 2011

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An aberrant immunologic mechanism has been suggested to be involved in the pathogenesis of endometriosis. Genetic alterations in the vitamin D receptor gene (VDR) may lead to important defects in gene activation that principally affect immune function. We have hypothesized a possible relationship between endometriosis and/or infertility and the VDR polymorphisms (ApaI, TaqI, FokI, and BmsI). The study was a case-control study including 132 women with endometriosis-related infertility, 62 women with idiopathic infertility, and 133 controls. VDR polymorphisms were studied by restriction fragment length polymorphism. We found relatively similar VDR polymorphism genotype frequencies in cases and controls. When patients with minimal/mild and moderate/severe endometriosis were studied separately, no difference was found. When we compared infertile groups with and without endometriosis there was no statistically significant difference. The data suggest that VDR polymorphisms did not play an important role in the pathogenesis of endometriosis and/or infertility in the Brazilian women studied.

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“…Several studies have revealed many genetic markers related to the immune, neuroendocrine, and reproductive function among patients with endometriosis indicating associations between the development of endometriosis and genetic polymorphisms (2,3).…”

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Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis

Andre

Barbosa

Teles

et al. 2011

Fertility and Sterility

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

Abstract: 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.

Cited by 22 publications

References 30 publications

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

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

Analysis of vitamin D receptor gene polymorphisms in women with and without endometriosis

Analysis of FOXP3 polymorphisms in infertile women with and without endometriosis

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