Endometriosis: A genetic disease
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⤵ 22 in-corpus citations
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This paper reviews current genetic research into endometriosis, highlighting how advancements in technology are being used to identify susceptibility genes and potentially inform individualized prevention and treatment strategies.
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Abstract
Endometriosis is a multifactorial disease affecting up to 15% of women of reproductive age. This condition is characterized by the presence and growth of endometrial cells outside the uterus. Susceptibility to endometriosis depends on complex interactions of immunologic, hormonal, environmental and genetic factors. Although familial inheritance plays a role, multiple candidate genes appear to be involved. New studies investigating the influence of genetic variants on endometriosis are published with increasing frequency. A number of technologies have emerged to facilitate progress in this field, including subtractive cDNA hybridization to identify secretory endometrial genes, DNA chip technology, differential display polymerase chain reaction, cytogenetics evaluation of endometriotic cells and tissues, and complementary methods in proteomics and informatics. One general approach to uncovering genes pivotal to endometriosis is to search systematically for perturbations in selective candidate genes or chromosomal regions using polymerase chain reaction. We describe here novel association studies on obvious candidates, including genes governing cancer susceptibility, hormone sensitivity or immunology. The assessment of mutations and polymorphisms may allow individualization of therapies as well as primary and secondary prevention strategies for endometriosis, aimed at high-risk populations.
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Cited by (22)
- Insights into inflammatory gene expression in endometriosis: a comparative evaluation of tissue biopsy samples 2025
- Machine Learning Classifiers for Endometriosis Using Transcriptomics and Methylomics Data 2019
- Novel Drug Targets with Traditional Herbal Medicines for Overcoming Endometriosis 2018
- The impact of infertility diagnosis on embryo-endometrial dialogue 2018
- Association of interleukin‐16 polymorphisms with disease progression and susceptibility in endometriosis 2016
- Prevalence and Polymorphism in Interferon-γ Gene (CA) Repeats with Different Stages of Endometriosis 2013
- Abdomen agudo como primera manifestación clínica de endometriosis 2013
- Understanding the pathogenesis of endometriosis through proteomics: Recent advances and future prospects 2013
- GOSERELIN ACETATE FOR RECURRENT ENDOMETRIOSIS 2012
- Novel Therapies Targeting Endometriosis 2011
- Endometriosis: ways of the decision of a problem to the XXI century 2011
- Transforming Growth Factor-β1 Gene Polymorphisms in Korean Women With Endometriosis 2011
- A Botanical Extract from Channel Flow Inhibits Cell Proliferation, Induces Apoptosis, and Suppresses CCL5 in Human Endometriotic Stromal Cells1 2009
- Functional genetic polymorphisms and female reproductive disorders: Part II--endometriosis 2008
- <i>Endometriosis and Tissue Factor</i> 2008
- The link between environmental toxicant exposure and endometriosis 2007
- Macrophage migration inhibitory factor expression in the intrauterine endometrium of women with endometriosis varies with disease stage, infertility status, and pelvic pain 2006
- An investigation of the effects of endometriosis on the proteome of human eutopic endometrium: A heterogeneous tissue with a complex disease 2006
- Evaluation of clinical parameters and estrogen receptor alpha gene polymorphisms for patients with endometriosis 2005
- Ten Estrogen-Related Polymorphisms and Endometriosis 2005
- Advances in the management of endometriosis: an update for clinicians 2005
- ENDOMETRIOSIS FAMILIAR: REPORTE DE UNA FAMILIA CON HERENCIA MENDELIANA 2005
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- europepmc
- last seen: 2026-06-20T06:14:18.781669+00:00
- openalex
- last seen: 2026-06-10T17:14:06.276822+00:00
- pubmed
- last seen: 2026-05-13T22:12:38.158000+00:00
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