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Endometriosis: From Genes to Global Burden
Pawel Kordowitzki1,2, Liam P Kelley3, Sylvia Mechsner2
1Department of Basic and Preclinical Sciences, Nicolaus Copernicus University, 87-100 Torun, Poland.
International Journal of Molecular Sciences
|January 10, 2026
Summary
Endometriosis significantly impacts women
Area of Science:
- Reproductive Medicine and Genetics
- Global Health and Epidemiology
Background:
- Endometriosis is a complex, multifactorial disorder affecting women's physical, psychological, and social well-being.
- It is increasingly recognized as a systemic condition associated with other pathologies, including mental health disorders and cancer.
- Understanding the global burden and genetic underpinnings of endometriosis is crucial for effective management.
Purpose of the Study:
- To analyze the global burden of endometriosis using Disability-Adjusted Life Years (DALYs) and Years Lived with Disability (YLDs).
- To investigate differential gene expression in endometriosis-affected tissues compared to control endometrium.
- To identify genetic markers associated with pain and malignant turnover in endometriosis.
Main Methods:
- Analysis of Global Burden of Disease Study (GBD 2021) data for DALYs and YLDs related to endometriosis.
- Differential gene expression analysis using RNA sequencing data from the Turku Endomet Database.
- Linear modeling to compare mRNA expression levels between control and endometriosis tissues (ovarian endometrioma, peritoneal lesions, deep endometriosis).
Main Results:
- Endometriosis accounted for the highest total YLDs in women in 2021 (19.98%), with significant contributions from anxiety (17.21%) and depression (8.12%).
- Upregulated genes in endometriosis tissues include FOS, DES, SIRT1, and SBDS; downregulated genes include KIF22, KIF25, GAS2L2, and HINT3.
- Clustering analysis identified pain-related genes such as SRP14/BMF, GDAP1, MLLT10, BSN, and NGF, indicating a genetic basis for endometriosis-associated pain.
Conclusions:
- Endometriosis imposes a substantial global health burden, particularly impacting mental health and quality of life.
- Identified genetic markers provide biological insights into the pain and potential malignant progression associated with endometriosis.
- A holistic, psychosomatic approach is recommended for managing endometriosis, addressing both physical and mental health aspects.
Keywords:
Disability-Adjusted Life Yearsanxietyendometriosisglobal disease burdenpainpsychosomaticyears lived with disabilityMore Related Videos
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