ArticleDisease markers2013
ESR1 rs9340799 is associated with endometriosis-related infertility and in vitro fertilization failure.
Article in Disease markers, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
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Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 39 citations in OpenAlex.
- Genome-wide analyses identify 25 infertility loci and relationships with reproductive traits across the allele frequency spectrum.Nature genetics · 2025Pooled it
- Genetic trade-offs in fertility and longevity explain the maintenance of disease-associated alleles in humans.Nature ecology & evolution · 2026Article
- A bridge between infertility and anxiety: a novel role for genes.Reproduction & fertility · 2026Article
- An Overview of Endometriosis and Potential Pharmacogenetic Targets.Pharmaceutical research · 2026Review
- Double jeopardy: howFrontiers in cell and developmental biology · 2026Review
- Development and Validation of a Predictive Model Using Logistic Regression and Machine Learning for Carotid Artery Atherosclerosis Risk in Postmenopausal Han Women from Northern China: A Retrospective Case-Control Study.International journal of women's health · 2026Article
- Integrated multi-omics analysis identifies TLR4-mediated mechanisms in ATBC-induced ovarian dysfunction and female infertility: A network toxicology, transcriptomic, and Mendelian randomization study.Journal of ovarian research · 2025Article
- Article
- Exploring pathogenic SNPs and estrogen receptor alpha interactions in breast cancer: AnHeliyon · 2024Article
- The rs2046210 Polymorphism Is Associated with Endometriosis Risk and Elevated Estrogen Receptor 1 Expression in the Eutopic Endometrium of Women with the Disease.Biomedicines · 2024Article
- Reproductive function and behaviors: an update on the role of neural estrogen receptors alpha and beta.Frontiers in endocrinology · 2024Review
- Association of Polymorphisms inBiomedicines · 2023Article
- Towards a Better Understanding of Endometriosis-Related Infertility: A Review on How Endometriosis Affects Endometrial Receptivity.Biomolecules · 2023Review
- Telomere-related genes as potential biomarkers to predict endometriosis and immune response: Development of a machine learning-based risk model.Frontiers in medicine · 2023Article
- Polymorphisms of Estrogen Receptor-α and Estrogen Receptor-β Genes and its Expression in Endometriosis.Turkish journal of pharmaceutical sciences · 2021Article
- Characterization of immune pleiotropy of ESR1 gene in pigs.Immunogenetics · 2020Article
- The AGT Haplotype of the ESR2 Gene Containing the Polymorphisms rs2077647A, rs4986938G, and rs1256049T Increases the Susceptibility of Unexplained Recurrent Spontaneous Abortion in Women in the Chinese Hui Population.Medical science monitor : international medical journal of experimental and clinical research · 2020Article
- Transcriptome sequencing of endometrium revealed alterations in mRNAs and lncRNAs after ovarian stimulation.Journal of assisted reproduction and genetics · 2020Article
- Defining the genetic profile of endometriosis.Experimental and therapeutic medicine · 2019Review
- Endometriosis andExperimental and therapeutic medicine · 2018Review
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Estrogen receptor alpha has a central role in human fertility by regulating estrogen action in all human reproductive tissues. Leukemia inhibitory factor (LIF) expression, a cytokine critical for blastocyst implantation, is mediated by estrogen signaling, so we hypothesized that ESR1 gene polymorphisms might be candidate risk markers for endometriosis-related infertility and in vitro fertilization (IVF) failure. We included 98 infertile women with endometriosis, 115 infertile women with at least one IVF failure and also 134 fertile women as controls. TaqMan SNP assays were used for genotyping LIF (rs929271), MDM2 (rs2279744), MDM4 (rs1563828), USP7 (rs1529916), and ESR1 (rs9340799 and rs2234693) polymorphisms. The SNP ESR1 rs9340799 was associated with endometriosis-related infertility (P < 0.001) and also with IVF failure (P = 0.018). After controlling for age, infertile women with ESR1 rs9340799 GG genotype presented 4-fold increased risk of endometriosis (OR 4.67, 95% CI 1.84-11.83, P = 0.001) and 3-fold increased risk of IVF failure (OR 3.33, 95% CI 1.38-8.03, P = 0.007). Our results demonstrate an association between ESR1 rs9340799 polymorphism and infertile women with endometriosis and also with women who were submitted to IVF procedures and had no blastocyst implantation.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.