DNA methylation alterations—potential cause of endometriosis pathogenesis or a reflection of tissue heterogeneity?†

review OA: bronze CC0 ⤵ 12 in-corpus citations
AI-generated summary by claude@2026-06, 2026-06-08

This review examines DNA methylation changes in endometriosis, considering how tissue heterogeneity from mixed cell types may confound findings from whole-lesion biopsies and endometrium studies.

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Abstract

Alterations in the DNA methylation pattern of endometriotic lesions and endometrium of endometriosis patients have been proposed as one potential factor accompanying the endometriosis development. Although many differentially methylated genes have been associated with the pathogenesis of this disease, the overlap between the results of different studies has remained small. Among other potential confounders, the impact of tissue heterogeneity on the outcome of DNA methylation studies should be considered, as tissues are mixtures of different cell types with their own specific DNA methylation signatures. This review focuses on the results of DNA methylation studies in endometriosis from the cellular heterogeneity perspective. We consider both the studies using highly heterogeneous whole-lesion biopsies and endometrial tissue, as well as pure cell fractions isolated from lesions and endometrium to understand the potential impact of the cellular composition to the results of endometriosis DNA methylation studies. Also, future perspectives on how to diminish the impact of tissue heterogeneity in similar studies are provided.

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Condition tags

mesh:D004715endometriosis

MeSH descriptors

DNA Methylation Endometriosis Endometrium Endometriosis Endometriosis Endometriosis Endometrium Endometrium Female Humans

Citation neighborhood (2-hop)

Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. Outer rings show 2-hop neighbours — papers reached through the immediate citers/citees. [ collapse to 1-hop ]

References (84)

Cited by (12)

Source provenance

europepmc
last seen: 2026-06-04T01:30:01.192114+00:00
openalex
last seen: 2026-06-04T00:00:01.174412+00:00
pubmed
last seen: 2026-05-13T22:19:49.066213+00:00
License: CC0 · commercial use OK