ArticleScientific reports2018
Genetic regulation of disease risk and endometrial gene expression highlights potential target genes for endometriosis and polycystic ovarian syndrome.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 34 papers, 3 of them syntheses that pooled it.
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
34 citing papers in PubMed, 3 syntheses or guidelines pooled it, 61 citations in OpenAlex.
- Meta-analysis of endometrial transcriptome data reveals novel molecular targets for recurrent implantation failure.Journal of assisted reproduction and genetics · 2024Pooled it
- The genetic basis of endometriosis and comorbidity with other pain and inflammatory conditions.Nature genetics · 2023Pooled it
- A multi-level investigation of the genetic relationship between endometriosis and ovarian cancer histotypes.Cell reports. Medicine · 2022Pooled it
- Endometriosis-related alterations in the endometrium revealed by integrated single-cell and AI-powered approaches.Nature communications · 2026Article
- A bridge between infertility and anxiety: a novel role for genes.Reproduction & fertility · 2026Article
- Review
- Multilevel Transcriptomic Association Analysis Reveals Key Genes and Potential Mechanisms in Endometrial, Ovarian, and Cervical Cancers.Reproductive sciences (Thousand Oaks, Calif.) · 2025Article
- Regulation of RNA splicing in endometrial tissue and its association with endometriosis.iScience · 2025Article
- Improving Replication in Endometrial Omics: Understanding the Influence of the Menstrual Cycle.International journal of molecular sciences · 2025Review
- Integrative Analysis of eQTL Genes Reveals Key Biomarkers and Mechanisms for Early Diagnosis of Pancreatic Ductal Adenocarcinoma.Cancer informatics · 2025Article
- A Case Report on Endometrial Receptivity Array Test for Infertile Patient to Enhance Reproductive Outcomes.Cureus · 2024Article
- Article
- A molecular staging model for accurately dating the endometrial biopsy.Nature communications · 2023Article
- Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function.Communications biology · 2023Article
- Article
- New concepts on the etiology of endometriosis.The journal of obstetrics and gynaecology research · 2023Article
- Endometriosis and inflammatory immune responses: Indian experience.American journal of reproductive immunology (New York, N.Y. : 1989) · 2023Review
- Altered differentiation of endometrial mesenchymal stromal fibroblasts is associated with endometriosis susceptibility.Communications biology · 2022Article
- Gene expression of the endocannabinoid system in endometrium through menstrual cycle.Scientific reports · 2022Article
- Article
Corrections and comments
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Authors and funding
14 authors at 2 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene expression varies markedly across the menstrual cycle and expression levels for many genes are under genetic control. We analyzed gene expression and mapped expression quantitative trait loci (eQTLs) in endometrial tissue samples from 229 women and then analyzed the overlap of endometrial eQTL signals with genomic regions associated with endometriosis and other reproductive traits. We observed a total of 45,923 cis-eQTLs for 417 unique genes and 2,968 trans-eQTLs affecting 82 unique genes. Two eQTLs were located in known risk regions for endometriosis including LINC00339 on chromosome 1 and VEZT on chromosome 12 and there was evidence for eQTLs that may be target genes in genomic regions associated with other reproductive diseases. Dynamic changes in expression of individual genes across cycle include alterations in both mean expression and transcriptional silencing. Significant effects of cycle stage on mean expression levels were observed for (2,427/15,262) probes with detectable expression in at least 90% of samples and for (2,877/9,626) probes expressed in some, but not all samples. Pathway analysis supports similar biological control of both altered expression levels and transcriptional silencing. Taken together, these data identify strong genetic effects on genes with diverse functions in human endometrium and provide a platform for better understanding genetic effects on endometrial-related pathologies.
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Registered trials
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.