Research Resource: Genome-Wide Profiling of Methylated Promoters in Endometriosis Reveals a Subtelomeric Location of Hypermethylation

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AI-generated summary by claude@2026-06, 2026-06-07

This study profiled methylated promoters across the genome in endometriosis subtypes, identifying 35 genes with altered methylation and expression, and finding hypermethylation predominantly at subtelomeric regions.

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Abstract

Several lines of evidence indicate that endometriosis could be partially due to selective epigenetic deregulations. Promoter hypermethylation of some key genes, such as progesterone receptor and aromatase, has been associated with the silencing of these genes and might contribute to the disease. However, it is unknown whether global alterations in DNA methylation patterns occur in endometriosis and to what extent they are involved in its pathogenesis. We conducted a whole-genome scanning of methylation status in more than 25,000 promoters, using methylated DNA immunoprecipitation with hybridization to promoter microarrays. We detailed the methylation profiles for each subtype of the disease (superficial endometriosis, endometriomas, and deep infiltrating endometriosis) and compared them with the profile obtained for the eutopic endometrium. In line with the current theory of the endometrial origin of endometriosis, the overall methylation profile was highly similar between the endometrium and the lesions. It showed promoter regions consistently hypomethylated or hypermethylated (more than 1.5-times, as compared with endometrium) and others specific to one given subtype. Albeit there was no systematic correlation between promoter methylation and expression of nearby genes, 35 genes had both methylation and expressional alterations in the lesions. These genes, reported here for the first time, might be of interest in the development of endometriosis. In addition, hypermethylated regions were located at the ends of the chromosomes, whereas hypomethylated regions were randomly distributed all along the chromosomes. We postulated that this original observation might participate to the chromosomal stability and protect the endometriotic lesion against malignancy.

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Condition tags

mesh:D004715endometriosisdie_deep_infiltrating

MeSH descriptors

DNA Methylation Endometriosis Gene Expression Profiling Genome, Human Promoter Regions, Genetic Telomere Chromosomes, Human Chromosomes, Human DNA Methylation DNA Restriction Enzymes DNA Restriction Enzymes Endometriosis Endometriosis Female Gene Expression Regulation Genome, Human Humans Laminin Laminin Oligonucleotide Array Sequence Analysis

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europepmc
last seen: 2026-06-04T01:30:01.192114+00:00
openalex
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pubmed
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