Research Resource: Genome-Wide Profiling of Methylated Promoters in Endometriosis Reveals a Subtelomeric Location of Hypermethylation
Open accessAbstract
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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Borghese et al found similar methylation profiles in the ectopic lesions and the eutopic endometrium obtained from women with disease.
“Although the differences may be due to sampling eutopic versus ectopic endometrium, Borghese et al found similar methylation profiles in the ectopic lesions and the eutopic endometrium obtained from women with disease.55”
From Altered genome-wide methylation in endometriosis (2014) · cites this paper as [55]
Many of the genes identified by Borghese et al as having significantly altered methylation in endometriosis were also identified in our array; these include MAFB, HOXD10, and HOXD11.
“Many of the genes identified by Borghese et al as having significantly altered methylation in endometriosis were also identified in our array; these include MAFB, HOXD10, and HOXD11.”
From Altered genome-wide methylation in endometriosis (2014) · cites this paper as [55]
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- Authors
- Borghese, B., Barbaux, S., Mondon, F., Santulli, P., Pierre, G., Vinci, G., Chapron, C., & Vaiman, D.
- Affiliations
- Centre National de la Recherche Scientifique (FR)
- Corresponding author
- Borghese, Bruno
- Venue
- Molecular Endocrinology
- Publisher
- The Endocrine Society
- Published
- 2010-09
- Volume
- 24
- Issue
- 9
- Pages
- 1872-1885
- ISSN
- 0888-8809 (ISSN-L)
- 1944-9917
- PMC
- PMC5417403
- OpenAlex
- W2033961624
- Cited by
- 97
- References
- 59
- Citations by year
- 2026: 2 · 2025: 3 · 2024: 5 · 2023: 5 · 2022: 3 · 2021: 2 · 2020: 7 · 2019: 10 · 2018: 9 · 2017: 7 · 2016: 6 · 2015: 10 · 2014: 8 · 2013: 7 · 2012: 10
- FWCI
- 7.58
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Molecular Endocrinology (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Institut National de la Santé et de la Recherche Médicale
- Centre National de la Recherche Scientifique
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Agricultural and Biological Sciences › Ecology, Evolution, Behavior and Systematics › Plant and fungal interactions
- Keywords
- endometriosis, DNA methylation, promoter hypermethylation, promoter hypomethylation, epigenetic dysregulation, superficial endometriosis, endometrioma, deep infiltrating endometriosis, eutopic endometrium, gene expression, chromosome stability, endometriosis pathogenesis, methylated DNA immunoprecipitation
- MeSH terms
- Chromosomes, Human, DNA Restriction Enzymes, Endometriosis, Female, Gene Expression Regulation, Humans, Laminin, Promoter Regions, Genetic, Transcription Factors, Reproducibility of Results, Genome, Human, Telomere, Sequence Analysis, DNA, DNA Methylation, Reverse Transcriptase Polymerase Chain Reaction, Oligonucleotide Array Sequence Analysis, Gene Expression Profiling
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