Associations between Estrogen Receptor Gene Polymorphisms and Endometriosis

Myung Jin Mun, Jin-Ho Kim, Tae Hee Kim, Ji‐Young Hwang, Won-Choeul Jang
In: The Journal of Korean Society of Menopause · 2013 · vol. 19(2) , pp. 64 · doi:10.6118/jksm.2013.19.2.64 · W2010046258
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

Estrogen receptor gene polymorphisms (ERα -PvuII, ERα -XbaI, ERβ -RsaI, and ERβ -AluI) show varied associations with endometriosis risk across Asian and European populations, potentially aiding in risk prediction.

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This paper is a review that analyzed whether estrogen receptor (ER) alpha and ER beta gene polymorphisms are associated with endometriosis risk using statistical analyses pooled across studies and populations. It reports that ERα-PvuII polymorphism shows a tendency to increase endometriosis risk in Europe, ERα-XbaI shows a slightly increased risk in both Asia and Europe, ERβ-RsaI increases risk in Brazil, and ERβ-AluI reduces disease risk in Asia; it additionally suggests these variants may help predict higher or lower risk. The review’s major caveat is that it calls for further studies incorporating interactions with additional related genes and environmental factors to better clarify associations. This paper is centrally about endometriosis — it reviews ERα and ERβ gene polymorphisms linked to endometriosis susceptibility.

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Abstract

Endometriosis is common estrogen-related gynecological diseases related to interactions of dietary, genetic causes, social and environmental factors. The high prevalence approaches 5-15% in premenopausal women and 30% in infertile women, and it is unusual to occur after the onset of menopause. In this review, the gene polymorphisms of estrogen receptor (ER) α and β re-lated to the risks of endometriosis were investigated through statistical analysis by using the gene polymorphism for the risks of the disease examined trends. The polymorphism of ERα -PvuII in Europe tends to increase the risk of endometriosis and, ERα -XbaI polymorphisms in both Asia and Europe have a slightly increased risk of endometriosis. In the case of ERβ -RsaI, the risk of endometriosis increases in Brazil, while the polymorphism of ERβ -AluI reduces the disease risks in Asia. Polymorphism studies on ER associated with the risk of endometriosis in Asia and Europe showed that those polymorphisms may be used to predict the high or low risks of endometriosis, and potentially used for prevention, therapy or prognosis of endometriosis. Further studies on interacting with more related genes and environmental factors may provide a better understanding of associations between estrogen receptor gene polymorphisms and endometriosis. (J Korean Soc Menopause 2013;19:64-73)
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Abstract

Endometriosis is common estrogen-related gynecological diseases related to interactions of dietary, genetic causes, social and environmental factors. The high prevalence approaches 5-15% in premenopausal women and 30% in infertile women, and it is unusual to occur after the onset of menopause. In this review, the gene polymorphisms of estrogen receptor (ER) α and βre-lated to the risks of endometriosis were investigated through statistical analysis by using the gene polymorphism for the risks of the disease examined trends. The polymorphism of ERα-PvuII in Europe tends to increase the risk of endometriosis and, ERα-XbaI polymorphisms in both Asia and Europe have a slightly increased risk of endometriosis. In the case of ERβ-RsaI, the risk of endometriosis increases in Brazil, while the polymorphism of ERβ-AluI reduces the disease risks in Asia. Polymorphism studies on ER associated with the risk of endometriosis in Asia and Europe showed that those polymorphisms may be used to predict the high or low risks of endometriosis, and potentially used for prevention, therapy or prognosis of endometriosis. Further studies on interacting with more related genes and environmental factors may provide a better understanding of associations between estrogen receptor gene polymorphisms and endometriosis. Fig. 1 Four major mechanisms of estrogen and estrogen receptors (ER). (I) Classical ligand-dependent genomic target with direct binding actions; estrogen-ER complex directly binds to estrogen response element (ERE) in the target genes and then leads to regulations of transcription activity. (II) Non-classical ligand-dependent genomic target with indirect binding actions; estrogen-bound ER dimers interact with transcription factors, followed by regulations of target genes. (III) Ligand-dependent, non-genomic target actions; estrogen-ER complex phosphorylation (P) to target proteins lead to functions of proteins in cytoplasm or activations of transcription factor (TF) through phosphorylation in nucleus. (IV) Non-classical ligand-independent genomic target with direct binding actions; activation of growth factor receptor (GFR) phosphorylates ER to bind and regulate the target genes. The abbreviation are as follows; ER, ERE, TF, P, growth factor (GF), GFR, heat shock protein (HSP), RNA polymerase II (POL II) and coactivator (CoA). The dashed lines represent multiple pathways. Fig. 2 Schematic representation of estrogen receptors (ER). ERα and ERβ variants show DNA-binding domains (DBD), hinge regions, ligand-binding domains (LBD) and two transcriptional activation functions, AF-1 and AF-2. Four major single nucleotide polymorphisms studied in this review are shown in the boxes: ERα-PvuII (rs2234693; c.435-397T > C), ERα-XbaI (rs9340799; c.453-351A > G), ERβ-RsaI (rs1256049; c.984G > A) and ERβ-AluI (rs4986938; c.4106+1872G > A). Table 1 Summary of PvuII polymorphism of estrogen receptor α (ERα) gene on endometriosis risk Table 2 Summary of XbaI polymorphism of estrogen receptor α (ERα) gene on endometriosis risk Table 3 Summary of RsaI polymorphism of estrogen receptor β (ERβ) gene associated with endometriosis risk Table 4 Summary of AluI polymorphism of estrogen receptor β (ERβ) gene associated with endometriosis risk

References

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