Cross-disorder analysis of endometriosis and its comorbid diseases reveals shared genes and molecular pathways and proposes putative biomarkers of endometriosis

Eva Vargas, Vargas E, Lusine Aghajanova, Gemzell-Danielsson K, Kristina Gemzell-Danielsson, Kristina Gemzell‐Danielsson, Signe Altmäe, Francisco J Esteban
Reproductive biomedicine online · 2019 · vol. 40(2) , pp. 305–318 · doi:10.1016/j.rbmo.2019.11.003 · PMID:31926826 · W2991395535
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⚙ AI-generated summary by claude@2026-06+body, 2026-06-13 ⓘ

This study identified 127 candidate genes recurrently expressed in endometriosis and its comorbidities, revealing shared pathways and proposing 16 validated genes as potential endometriosis biomarkers.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-13 · read from full text ⓘ

This paper asked whether studying endometriosis-associated comorbid chronic diseases could reveal shared genetic signals, pathways, and potential biomarkers of endometriosis. The authors systematically reviewed endometriosis-linked comorbid conditions, mapped them to MeSH terms, then used Phenopedia gene expression profiles and a systems biology approach to identify recurrently expressed genes across endometriosis and its “sibling disorders.” They reported 127 candidate “endometriosis sibling disorder” genes enriched for immune and drug responses, hormone metabolism, and cell proliferation, and validated the involvement of 16 specific genes in independent cohorts (n=207), while noting that some genes include polymorphisms associated with endometriosis or comorbid conditions. This paper is centrally about endometriosis — it uses cross-disorder gene-expression and pathway analysis to propose putative endometriosis biomarkers and shared molecular pathways with comorbid diseases.

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Abstract

Research questionWomen with endometriosis are considered to be at higher risk of several chronic diseases, such as autoimmune disorders, gynaecological cancers, asthma/atopic diseases and cardiovascular and inflammatory bowel diseases. Could the study of endometriosis-associated comorbidities help to identify potential biomarkers and target pathways of endometriosis?DesignA systematic review was performed to identify all possible endometriosis-associated comorbid conditions. Next, this list of disorders was coded into MeSH terms, and the gene expression profiles were downloaded from the Phenopedia database and subsequently analysed following a systems biology approach.ResultsThe results identified a group of 127 candidate genes that were recurrently expressed in endometriosis and its closest comorbidities and that were defined as 'endometriosis sibling disorders' (ESD). The enrichment analysis showed that these candidate genes are principally involved in immune and drug responses, hormone metabolism and cell proliferation, which are well-known hallmarks of endometriosis. The expression of ESD genes was then validated on independent sample cohorts (n = 207 samples), in which the involvement of 16 genes (AGTR1, BDNF, C3, CCL2, CD40, CYP17A1, ESR1, IGF1, IGF2, IL10, MMP1, MMP7, MMP9, PGR, SERPINE1 and TIMP2) in endometriosis was confirmed. Several of these genes harbour polymorphisms that associate to either endometriosis or its comorbid conditions.ConclusionsThe study results highlight the molecular processes underlying the aetiopathogenesis of endometriosis and its comorbid conditions, and identify putative endometriosis biomarkers.
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Results

The results identified a group of 127 candidate genes that were recurrently expressed in endometriosis and its closest comorbidities and that were defined as ‘endometriosis sibling disorders’ (ESD). The enrichment analysis showed that these candidate genes are principally involved in immune and drug responses, hormone metabolism and cell proliferation, which are well-known hallmarks of endometriosis. The expression of ESD genes was then validated on independent sample cohorts (n = 207 samples), in which the involvement of 16 genes (AGTR1, BDNF, C3, CCL2, CD40, CYP17A1, ESR1, IGF1, IGF2, IL10, MMP1, MMP7, MMP9, PGR, SERPINE1 and TIMP2) in endometriosis was confirmed. Several of these genes harbour polymorphisms that associate to either endometriosis or its comorbid conditions.

Conclusions

The study results highlight the molecular processes underlying the aetiopathogenesis of endometriosis and its comorbid conditions, and identify putative endometriosis biomarkers.

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Condition tags

endometriosis

MeSH descriptors

Autoimmune Diseases Databases, Genetic Endometriosis Inflammatory Bowel Diseases Autoimmune Diseases Autoimmune Diseases Biomarkers Cluster Analysis Comorbidity Endometriosis Endometriosis Female Humans Inflammatory Bowel Diseases Inflammatory Bowel Diseases Polymorphism, Genetic

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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