Epigenetics of endometriosis
Abstract
Endometriosis is a common gynecologic disorder with an enigmatic etiopathogenesis. Although it has been proposed that endometriosis is a hormonal disease, an autoimmune disease, a genetic disease, and a disease caused by exposure to environmental toxins, our understanding of its etiopathogenesis is still inadequate, as reflected by recent apparent setbacks in clinical trials on endometriosis. In the last 5 years, evidence has emerged that endometriosis may be an epigenetic disease. In this article, the evidence in support of this hypothesis is reviewed, and its diagnostic, therapeutic and prognostic implications discussed. Publications, up to the end of June 2009, pertaining to epigenetic aberration in endometriosis were identified through PubMed. In addition, publications on related studies were also retrieved and reviewed. Epigenetics appears to be a common denominator for hormonal and immunological aberrations in endometriosis. Epigenetics also appears to have a better explanatory power than genetics. There is accumulating evidence that various epigenetic aberrations exist in endometriosis. In vitro studies show that histone deacetylase inhibitors may be promising therapeutics for treating endometriosis. In conclusion, several lines of evidence suggest that epigenetics plays a definite role in the pathogenesis and pathophysiology of endometriosis. As such, endometriosis is possibly treatable by rectifying epigenetic aberrations through pharmacological means. DNA methylation markers may also be useful for diagnostic and prognostic purposes. It is also possible that the delineation of the epigenetic changes accompanied by the genesis and progression of endometriosis could lead to interventions that reduce the risk of developing endometriosis.
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It is highly likely that the altered eutopic endometrial response to steroid hormones was due to transitory modification in the genome imposed by the external presence of ectopic foci.
“It is highly likely, however, that the altered endometrial response was due to transitory modification in the genome imposed by the external presence of ectopic foci (9).”
From Biomarkers in endometriosis: Challenges and opportunities (2017) · cites this paper as [9]
The eutopic endometrium displays aberrant molecular regulatory mechanisms due to epigenetic changes in steroid hormone-responsive genes.
“As thoroughly reviewed by Guo et al. (9), the eutopic endometrium displays aberrant molecular regulatory mechanisms due to epigenetic changes in steroid hormone-responsive genes.”
From Biomarkers in endometriosis: Challenges and opportunities (2017) · cites this paper as [9]
Endometriosis is associated with aberrant DNA methylation in the eutopic endometrium.
“Endometriosis has been associated with aberrant methylation in the eutopic endometrium.”
From Altered genome-wide methylation in endometriosis (2014) · cites this paper as [11]
Epigenetic modification is a possible mechanism by which the expression of genes necessary for the establishment of endometriosis is altered.
“Epigenetic modification is a possible mechanism by which the expression of genes necessary for the establishment of endometriosis is altered.11,12”
From Altered genome-wide methylation in endometriosis (2014) · cites this paper as [11]
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- Authors
- Guo, S.-W.
- Affiliations
- Shanghai Jiao Tong University (CN)
- Corresponding author
- Guo, S.-W.
- ORCID
- Guo, S.-W.
- Venue
- Molecular Human Reproduction
- Publisher
- Oxford University Press (OUP)
- Published
- 2009-08-03
- Volume
- 15
- Issue
- 10
- Pages
- 587-607
- ISSN
- 1360-9947 (ISSN-L)
- 1460-2407
- OpenAlex
- W2164385268
- Cited by
- 328
- References
- 314
- Citations by year
- 2026: 7 · 2025: 14 · 2024: 13 · 2023: 25 · 2022: 16 · 2021: 14 · 2020: 15 · 2019: 16 · 2018: 25 · 2017: 24 · 2016: 22 · 2015: 22 · 2014: 24 · 2013: 26 · 2012: 24
- FWCI
- 3.05
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Human Reproduction (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Natural Science Foundation of China (074119517)
- Fudan University
- Science and Technology Commission of Shanghai Municipality
- Shanghai Medical College, Fudan University
- 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, epigenetics, epigenetic aberrations, histone deacetylase inhibitors, DNA methylation biomarkers, endometriosis diagnosis, endometriosis treatment, hormonal dysregulation, immune dysregulation
- MeSH terms
- Animals, Endometriosis, Female, Humans, DNA Methylation, MicroRNAs, Epigenesis, Genetic
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