Should genetics now be considered the pre-eminent etiologic factor in endometriosis?
Open accessAbstract
Endometriosis is a common, estrogen-dependent, inflammatory disorder characterized by the growth of endometrial-like tissue at extrauterine locations. Its pathogenesis and mechanisms underlying its pathophysiology are poorly understood, although genetic variation is strongly implicated in these processes. Genetic studies reveal that approximately 50% of risk for endometriosis is due to genetic factors and the other 50% likely owing to environmental factors. As with other complex diseases, genetic variants in the DNA sequence increasing endometriosis risk all have small effects, unlike most single-gene disorders. It is the combinations of these variants adding together that contribute to higher risks for individual women. In addition, recent data on disease lesions demonstrate a high frequency of somatic (likely acquired) mutations, some of which are present in the eutopic endometrium and specifically in the epithelial cell compartment, raising the possibility that abnormal epithelial progenitors in the eutopic endometrium give rise to ectopic disease. Discovery in this field is occurring at a rapid pace, and further definitions of genetic (germline) and environmental (somatic) contributions to the pathogenesis and pathophysiology of this disorder are anticipated soon. These discoveries are expected to increase diagnostic, therapeutic, and preventive strategies to minimize disease and its associated morbidities.
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A genetic factor is responsible for about 50% of the predisposition to endometriosis.
“On the basis of statistical analyses of the family history of endometriosis, it has been proven that a genetic factor is responsible for about 50% of the predisposition to the disease [178].”
From Endometriosis: Epidemiology, Classification, Pathogenesis, Treatment and Genetics (Review of Literature) (2021) · cites this paper as [178]
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- Authors
- Montgomery, G. W., Mortlock, S., & Giudice, L. C.
- Affiliations
- The University of Queensland (AU)
- University of California, San Francisco (US)
- Corresponding author
- Montgomery, Grant W.
- Venue
- Journal of Minimally Invasive Gynecology
- Publisher
- Elsevier BV
- Published
- 2020-02
- Volume
- 27
- Issue
- 2
- Pages
- 280-286
- ISSN
- 1553-4650 (ISSN-L)
- PMC
- PMC7863762
- OpenAlex
- W2987191598
- Cited by
- 49
- References
- 41
- Citations by year
- 2026: 5 · 2025: 3 · 2024: 4 · 2023: 8 · 2022: 14 · 2021: 10 · 2020: 5
- FWCI
- 1.02
- Type
- journal article
- Language
- en
- Open access
- green
- europepmc.org
- Locations
- Journal of Minimally Invasive Gynecology (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- Funders
- National Health and Medical Research Council
- NICHD
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Endometriosis Research and Treatment
- Health Sciences › Medicine › Public Health, Environmental and Occupational Health › Ectopic Pregnancy Diagnosis and Management
- Health Sciences › Medicine › Obstetrics and Gynecology › Gynecological conditions and treatments
- Keywords
- endometriosis, genetic susceptibility, somatic mutations, germline genetic variants, endometriosis pathogenesis, environmental risk factors, complex disease genetics, eutopic endometrium
- MeSH terms
- Diagnosis, Differential, Diagnostic Techniques, Obstetrical and Gynecological, Endometriosis, Endometrium, Estrogens, Female, Genetic Testing, Humans, Mutation, Peritoneal Diseases, Risk Factors, Genetic Predisposition to Disease
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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