Global Endometrial DNA Multi-omics Analysis Reveals Insights into mQTL Regulation and Associated Endometriosis Disease Risk

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, Kim Chi Vo, Evelina Manvelyan, Sushmita Sen, Zhanna Ghukasyan, Frances Collins, Xavier Santamaría, 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, Marina Sirota, Linda C. Giudice
In: bioRxiv · 2022 · doi:10.1101/2022.11.27.518106 · W4310157875
preprint OA: gold CC0
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⚙ AI-generated summary by claude@2026-06, 2026-06-08 ⓘ

This study analyzed endometrial DNA methylation and genotype data from 984 women, revealing differences in methylation profiles across menstrual cycle phases and between endometriosis patients and controls, with DNAm explaining 15.4% of endometriosis variation.

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Abstract

Abstract Endometriosis is a leading cause of pain and infertility affecting millions of women globally. Identifying biologic and genetic effects on DNA methylation (DNAm) in endometrium increases understanding of mechanisms that influence gene regulation predisposing to endometriosis and offers an opportunity for novel therapeutic target discovery. Herein, we characterize variation in endometrial DNAm and its association with menstrual cycle phase, endometriosis, and genetic variants through analysis of genome-wide genotype data and methylation at 759,345 DNAm sites in endometrial samples from 984 deeply-phenotyped participants. We identify significant differences in DNAm profiles between menstrual cycle phases and at four DNAm sites between stage III/IV endometriosis and controls. We estimate that 15.4% of the variation in endometriosis is captured by DNAm, and identify DNAm networks associated with endometriosis. DNAm quantitative trait locus (mQTL) analysis identified 118,185 independent cis -mQTL including some tissue-specific effects. We find significant differences in DNAm profiles between endometriosis sub- phenotypes and a significant association between genetic regulation of methylation in endometrium and disease risk, providing functional evidence for genomic targets contributing to endometriosis risk and pathogenesis.

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endometriosisinfertility

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