Beyond Endometriosis Genome-Wide Association Study: From Genomics to Phenomics to the Patient
Open accessAbstract
Endometriosis is a heritable, complex chronic inflammatory disease, for which much of the causal pathogenic mechanism remains unknown. Genome-wide association studies (GWAS) to date have identified 12 single nucleotide polymorphisms at 10 independent genetic loci associated with endometriosis. Most of these were more strongly associated with revised American Fertility Society stage III/IV, rather than stage I/II. The loci are almost all located in intergenic regions that are known to play a role in the regulation of expression of target genes yet to be identified. To identify the target genes and pathways perturbed by the implicated variants, studies are required involving functional genomic annotation of the surrounding chromosomal regions, in terms of transcription factor binding, epigenetic modification (e.g., DNA methylation and histone modification) sites, as well as their correlation with RNA transcription. These studies need to be conducted in tissue types relevant to endometriosis-in particular, endometrium. In addition, to allow biologically and clinically relevant interpretation of molecular profiling data, they need to be combined and correlated with detailed, systematically collected phenotypic information (surgical and clinical). The WERF Endometriosis Phenome and Biobanking Harmonisation Project is a global standardization initiative that has produced consensus data and sample collection protocols for endometriosis research. These now pave the way for collaborative studies integrating phenomic with genomic data, to identify informative subtypes of endometriosis that will enhance understanding of the pathogenic mechanisms of the disease and discovery of novel, targeted treatments.
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Genetic factors mediate approximately 50% of the risk of developing endometriosis.
“Genetic factors mediate approximately 50% of the risk of developing endometriosis.34”
From Prenatal Origins of Endometriosis Pathology and Pain: Reviewing the Evidence of a Role for Low Testosterone (2023) · cites this paper as [34]
Genome-wide scanning resulted in 10 significant loci and a significant association of six of these.
“Genome-wide scanning resulted in 10 significant loci and a significant association of six of these (167, 168).”
From Pathogenesis of deep endometriosis (2017) · cites this paper as [167]
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Summary of Future Developments
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Epigenetic Landscapes of Endometriosis: From Pathogenesis to Precision Medicine
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Endometrial Immune-Inflammatory Gene Signatures in Endometriosis
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Molecular biomarkers of endometriosis
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- Authors
- Rahmioglu, N., Morris, A., Nyholt, D., Montgomery, G., Becker, C., Missmer, S., & Zondervan, K.
- Affiliations
- Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom
- Centre for Human Genetics (GB)
- Queensland University of Technology (AU)
- QIMR Berghofer Medical Research Institute (AU)
- University of Oxford (GB)
- Brigham and Women's Hospital (US)
- Corresponding author
- Zondervan, Krina
- Venue
- Seminars in Reproductive Medicine
- Publisher
- Georg Thieme Verlag KG
- Published
- 2016-08-11
- Volume
- 34
- Issue
- 04
- Pages
- 242-254
- ISSN
- 1526-4564 (ISSN-L)
- 1526-8004
- PMC
- PMC5693320
- OpenAlex
- W2518415001
- Cited by
- 84
- References
- 118
- Citations by year
- 2026: 4 · 2025: 5 · 2024: 6 · 2023: 6 · 2022: 4 · 2021: 5 · 2020: 17 · 2019: 6 · 2018: 18 · 2017: 12 · 2016: 1
- FWCI
- 1.77
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- Seminars in Reproductive Medicine (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- QUT ePrints (Queensland University of Technology) (submittedVersion)
- Funders
- Wellcome Trust (098017, WT098017)
- Medical Research Council (MR/K011480/1)
- National Health and Medical Research Council (619667)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- endometriosis, genetic loci, single nucleotide polymorphisms, endometriosis stage, intergenic regions, functional genomic annotation, transcription factor binding, DNA methylation, histone modifications, endometrium, phenomics, endometriosis subtypes, pathophysiological mechanisms, targeted therapy
- MeSH terms
- Endometriosis, Female, Humans, Risk, Genetic Heterogeneity, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Genome-Wide Association Study, Genetic Loci
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