Genome-Wide Association Studies (GWAS) in Endometriosis: Genetic Mechanisms and Comorbidity

L. V. Adamyan, V.Yu. Seregina, L.G. Pivazyan, M. N. Kuznetsova, D. Yu. Trofimov, K.S. Mailova, A.A. Stepanian
In: Russian Journal of Human Reproduction · 2025 · vol. 31(6) , pp. 35 · doi:10.17116/repro20253106135 · W7117235985
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⚙ AI-generated summary by claude@2026-06, 2026-06-07 ⓘ

This review synthesizes genetic risk loci and molecular mechanisms for endometriosis, detailing its comorbidity with immunological, metabolic, and psycho-emotional conditions and highlighting translational perspectives for personalized therapies.

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⚙ AI-generated deep summary by claude@2026-06, 2026-06-07 ⓘ

This paper reviews genome-wide association studies (GWAS) for endometriosis, synthesizing findings from large-scale meta-analyses and discussing genetic loci, genetic correlations and causal links with comorbid conditions, alongside newer multi-omics data (e.g., microbiome, lipidomics, cytokine profiling). The review highlights that a major consortium analysis identified 42 significant genomic loci (49 independent signals) near genes involved in reproductive development, steroid hormone regulation, and inflammation, with examples such as WNT4, GREB1, and IL1A; however, it stresses limitations including ancestry bias (mostly European cohorts), diagnostic heterogeneity (surgical vs self-report vs coding/biobank definitions), phenotypic heterogeneity by stage/subtype, and linkage disequilibrium that can obscure causal genes. It also notes that the identified common variants explain only a small fraction of risk in the general population (~2%), with the “missing heritability” problem remaining substantial. Relevance to endometriosis: the paper is centrally about endometriosis GWAS, focusing on genetic mechanisms and comorbidity relationships in endometriosis.

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Abstract

Endometriosis is a gynecological disorder characterized by the presence of endometrium-like tissue outside the uterine cavity and, in many cases, by a chronic and recurrent clinical course. This review synthesizes current evidence on the genetic risk loci associated with endometriosis, highlighting key genes implicated in hormonal regulation (WNT4, GREB1, FSHB), inflammation (IL1A), and tissue adhesion. Particular attention is given to genetic correlations and causal links between endometriosis and immunological and metabolic pathways, as well as psycho-emotional disturbances and pain phenotypes. Increasing data demonstrate a frequent co-occurrence of genetic risk factors for endometriosis with autoimmune disorders, neuropsychiatric conditions, and insulin-metabolism abnormalities, emphasizing the systemic nature of the disease. The review also summarizes multi-omics investigations—including microbiome, lipidomic, and epigenetic studies—that illuminate the complex interplay between genetic predisposition and environmental influences. Finally, translational perspectives are discussed, ranging from the development of clinically relevant biomarkers to the implementation of personalized therapeutic strategies informed by a patient’s genetic profile. Collectively, these findings advance the understanding of the molecular basis of endometriosis and outline new avenues for individualized diagnosis and management.

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Outcome instruments

rASRM Enzian

Condition tags

endometriosis

Citation neighborhood

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References (37)

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