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November 20, 2025European Journal of Human GeneticsOpen Access

Endometriosis - on the intersection of modern environmental pollutants and ancient genetic regulatory variants

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Authors

AWAmelia WarrenDADemetra AndreouDWDean Warren

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Overview

Literature review reveals immune dysregulation and EDC sensitivity in endometriosis, suggesting new biomarkers for early detection.

Key Points

  • This research aims to explore the genetic factors contributing to endometriosis susceptibility, particularly in early-stage patients.
  • Conducted a dual-phase literature review to identify relevant genes.
  • Analyzed whole-genome sequencing data from the Genomics England 100,000 Genomes Project in females with endometriosis.
  • Performed variant enrichment, co-localisation, and linkage disequilibrium analyses.
  • Evaluated the functional impact of regulatory variants using public databases.
  • Identified significant enrichment of six regulatory variants in the endometriosis cohort compared to controls.
  • Found strong linkage disequilibrium associated with IL-6 variants at a Neandertal-derived methylation site.
  • Noted associations of CNR1 and IDO1 variants with endometriosis, some being Denisovan origin.
  • Proposed gene-environment interaction mechanisms that may exacerbate endometriosis risk.

Cite This Study

Warren et al. (2025) studied this question.

synapsesocial.com/papers/6924f084c0ce034ddc350326https://doi.org/10.1038/s41431-025-01977-9
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