Global endometrial DNA methylation analysis reveals insights into mQTL regulation and associated endometriosis disease risk and endometrial function

Sally Mortlock, Sahar Houshdaran, Idit Kosti, Nilüfer Rahmioğlu, Camran Nezhat, Allison F. Vitonis, Shan V Andrews, Parker Grosjean, Manish Paranjpe, Andrew W. Horne, Alison Jacoby, Jeannette Lager, Jessica Opoku-Anane, Jessica Opoku‐Anane, Kim Chi Vo, Evelina Manvelyan, Sushmita Sen, Zhanna Ghukasyan, Frances Collins, Xavier Santamaría, Xavier Santamaria, Philippa T. K. Saunders, Kord M. Kober, Allan F McRae, Kathryn L Terry, Júlia Vallvé-Juanico, Christian M. Becker, Peter A. W. Rogers, Juan C Irwin, Krina T. Zondervan, Grant W. Montgomery, Stacey A. Missmer, Stacey Missmer, Marina Sirota, Linda C. Giudice
Communications biology · 2023 · vol. 6(1) , pp. 780 · doi:10.1038/s42003-023-05070-z · PMID:37587191 · W4385874294
article OA: gold CC0 ⤵ 14 in-corpus citations
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study analyzed DNA methylation in endometrial samples from 984 women, finding it explains 15.4% of endometriosis variation and identifying methylation differences linked to disease stage, sub-phenotypes, and menstrual cycle phase, with mQTL analysis revealing candidate genes for endometriosis risk.

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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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Condition tags

mesh:D004715endometriosisinfertility

MeSH descriptors

Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis Endometriosis DNA Methylation DNA Methylation DNA Methylation DNA Methylation DNA Methylation DNA Methylation DNA Methylation Embryo Implantation Embryo Implantation Embryo Implantation Embryo Implantation Embryo Implantation

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Cited by (14)

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License: CC0 · commercial use OK