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July 25, 2024BiomedicinesOpen Access

The rs2046210 Polymorphism Is Associated with Endometriosis Risk and Elevated Estrogen Receptor 1 Expression in the Eutopic Endometrium of Women with the Disease

Katharina Proestling Martin Schreiber Heidi Miedl Quanah J. Hudson H Husslein Lorenz Kuessel Manuela Gstoettner René Wenzl Iveta Yotova

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Abstract

In this focused genetic case-control study, we analyzed two functional single-nucleotide variants (SNVs) associated with breast cancer risk (rs2046210, rs9383590) and one risk SNV for an implantation defect and infertility (rs9340799) for their association with endometriosis susceptibility, progression and

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Proestling et al. (2024) studied this question.

synapsesocial.com/papers/68e5f1bab6db643587586802 https://doi.org/10.3390/biomedicines12081657

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Genetic and statistical analysis of ESR1 variants in endometriosis-related infertility: a case–control study from South IndiaOriginal Research · 2026
2POLYMORPHISMS OF THE WNT4 (RS7521902, RS16826658), GREB1 (RS13394619), FN1 (RS1250248), IL1A (RS6542095), AND VEZT (RS10859871) GENES AND ESTROGEN METABOLISM PARAMETERS (16α-OH-E1 AND 2-OH-E1) IN THE PATHOGENESIS OF ENDOMETRIOSIS (LITERATURE REVIEW)Narrative Review · 2026
3Gene Polymorphisms Determining Sex Hormone-Binding Globulin Levels and Endometriosis Risk2025 · 2 citations
4Polymorphism rs117585797 of the ANO2 gene as a genetic marker of a high risk of developing combined proliferative diseases of the uterus in women with endometriosis2024
5The Polymorphic Locus rs780093 of the Gene is Associated with the Risk of Infertility in EndometriosisOriginal Research · 2025

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Study of Estrogen Receptor Alpha Gene Polymorphisms (ERα, ESR1) in Women with Ovarian Cancer2026
<i>MLH1</i> rs63749795 variant confers increased risk for endometriosis: a genetic association study.2026
A common allele increases endometrial Wnt4 expression, with antagonistic implications for pregnancy, reproductive cancers, and endometriosis2024

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