ArticleCommunications biology2023
Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function.
Article in Communications biology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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
31 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Systematic review on the DNA methylation role in endometriosis: current evidence and perspectives.Clinical epigenetics · 2025Pooled it
- Predicting Endometriosis Status and Menstrual Cycle Phase Using DNA Methylation.bioRxiv : the preprint server for biology · 2026Article
- Transfer RNA-derived small RNAs in female reproductive disorders: emerging roles and clinical implications.Journal of assisted reproduction and genetics · 2026Review
- Whole genome methylation profiling of menstrual stem cells identifies novel biomarkers for endometriosis.Communications medicine · 2026Article
- Multi-ancestry genome-wide association and integrated multi-omics analyses of endometriosis and its clinical manifestations.Nature genetics · 2026Article
- Multi-omics biomarkers in female fertility: from oocyte quality to endometrial receptivity and clinical translation.Biomarker research · 2026Review
- Comprehensive Approaches to Endometriosis Management and Targeted Strategies for Bowel Endometriosis.Journal of clinical medicine · 2026Review
- Deconvolution of DNA methylation data reveals cell type-specific epigenomic signatures in endometriosis and eutopic endometrium.Molecular human reproduction · 2026Article
- Exploring the role of epigenetics in the processes related to the development of endometrosis in the mare.The Journal of reproduction and development · 2026Review
- The hypoxia-epigenetics-ncRNA axis in endometriosis: from molecular cascades to self-sustaining pathogenic circuits.Frontiers in endocrinology · 2026Review
- An Integrative Genome-Wide Analysis Reveals Shared and Subtype-Specific Genetic Links Between Endometriosis and Menstrual-Cycle-Related Traits.International journal of women's health · 2026Article
- Contribution of DNA methylation predicted leptin to all-cause, cancer, and cardiovascular mortality among US adults aged 50 years and older: findings from NHANES 1999-2002.Therapeutic advances in endocrinology and metabolism · 2026Article
- Expanding the genetic landscape of endometriosis: Integrative -omics analyses implicate key genes and pathways in a multi-ancestry study of over one million women.Research square · 2025Article
- Endometriosis: new insights and opportunities for relief of symptoms.Biology of reproduction · 2025Review
- M2 Macrophages are Major Mediators of Germline Risk of Endometriosis and Explain Pleiotropy With Comorbid Traits.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Potential biomarkers for early detection of endometriosis: current state of art (what we know so far).Journal of applied genetics · 2025Review
- Polychlorinated Biphenyls Alter Estrogen Receptor β-mediated Epigenetic Regulation, Promoting Endometriosis.Endocrinology · 2025Article
- Regulation of RNA splicing in endometrial tissue and its association with endometriosis.iScience · 2025Article
- Polychlorinated biphenyl Endocrine Disruptor Alters Estrogen Receptor beta-Mediated Epigenetic Regulation, Promoting Endometriosis.Research square · 2025Article
- Endometriosis and ovulatory menstruation: beyond the Sampson principle.The Journal of clinical investigation · 2025Review
Corrections and comments
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Authors and funding
32 authors at 9 institutions in 4 countries.
Funding
Abstract
Endometriosis is a leading cause of pain and infertility affecting millions of women globally. Herein, we characterize variation in DNA methylation (DNAm) and its association with menstrual cycle phase, endometriosis, and genetic variants through analysis of genotype data and methylation in endometrial samples from 984 deeply-phenotyped participants. We estimate that 15.4% of the variation in endometriosis is captured by DNAm and identify significant differences in DNAm profiles associated with stage III/IV endometriosis, endometriosis sub-phenotypes and menstrual cycle phase, including opening of the window for embryo implantation. Menstrual cycle phase was a major source of DNAm variation suggesting cellular and hormonally-driven changes across the cycle can regulate genes and pathways responsible for endometrial physiology and function. DNAm quantitative trait locus (mQTL) analysis identified 118,185 independent cis-mQTLs including 51 associated with risk of endometriosis, highlighting candidate genes contributing to disease risk. Our work provides functional evidence for epigenetic targets contributing to endometriosis risk and pathogenesis. Data generated serve as a valuable resource for understanding tissue-specific effects of methylation on endometrial biology in health and disease.
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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.