The Genetic Basis of Endometriosis: Evidence from a Systematic Review and MetaAnalysis

Hikmat Omolara SULAYMAN, Emmanuel Eze, Mariam Hussain, Aiman Khan, Barbara Guinn
2026 · doi:10.5281/zenodo.18635411 · W7128815316
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This systematic review and meta-analysis examined genetic factors associated with the development and progression of endometriosis in women of reproductive age. The authors analyzed 44 case-control studies involving over 70,000 participants to assess the association between genetic variants and disease risk, alongside a smaller subset of gene expression studies. Results indicated a significant pooled odds ratio of 1.50 for genetic variant associations with endometriosis, while functional pathway analysis highlighted inflammation and cellular stress responses as central pathophysiological processes. This paper is centrally about endometriosis, focusing on identifying genetic susceptibility factors and potential therapeutic targets through comprehensive data synthesis.

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Abstract

Objectives: To examine the genetic factors associated with the development and progression of endometriosis. To gain insight into how these factors influence disease susceptibility among women with similar risk profiles, enhance risk stratification, improve the potential for personalized treatment, and identify new therapeutic targets. Evidence Review: The systematic review was conducted using PubMed, the Cochrane Library, Scopus, Medline (via EBSCO), CINAHL Ultimate (via EBSCO), and Google Scholar. The review included primary case-control studies that examined genetic traits, gene mutations, gene expression patterns, or inheritance patterns associated with endometriosis in women of reproductive age (15-49 years) from inception to 20 March 2025. Studies were excluded if they involved animal models, cell lines, adenomyosis, ovarian cancer, drugs, or addressed issues not linked to genetics or inheritance patterns. In addition, case reports, reviews, systematic reviews, and meta-analyses were excluded. Two independent reviewers, working autonomously, performed study screening and eligibility assessment to ensure an objective and thorough process. The Modified Newcastle-Ottawa Scale was used to assess the risk of bias. A total of 44 studies were included in the meta-analysis examining the association between genetic variants and 25,347 endometriosis patients compared with 47,312 controls. Data synthesis was carried out using a combination of random-effects meta-analysis, narrative synthesis, and functional enrichment analysis. Results: Fifty-two studies were included in the analysis of genetic variants and gene expression patterns. Meta-analysis of genetic variant studies (n=44) showed a significant association with endometriosis risk, with a pooled odds ratio of 1.50 (95% confidence interval (CI) 1.22–1.86; I² = 82.1%). Quantitative synthesis of the gene expression studies (n=8) yielded an overall effect estimate of standardised mean difference (SMD) of 0.78 (95% confidence interval (CI) −3.49 to 5.05; I² = 98.4%). Analysis indicated gene expression was heterogeneous, with qualitative assessment showing a wide range of genes recurrently dysregulated across studies. Functional pathway analysis highlighted extracellular signalling, inflammation, cellular stress responses, and growth-factor-dependent pathways as central processes implicated in the pathophysiology of endometriosis.
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Objectives

To examine the genetic factors associated with the development and progression of endometriosis. To gain insight into how these factors influence disease susceptibility among women with similar risk profiles, enhance risk stratification, improve the potential for personalized treatment, and identify new therapeutic targets. Evidence Review: The systematic review was conducted using PubMed, the Cochrane Library, Scopus, Medline (via EBSCO), CINAHL Ultimate (via EBSCO), and Google Scholar. The review included primary case-control studies that examined genetic traits, gene mutations, gene expression patterns, or inheritance patterns associated with endometriosis in women of reproductive age (15-49 years) from inception to 20 March 2025. Studies were excluded if they involved animal models, cell lines, adenomyosis, ovarian cancer, drugs, or addressed issues not linked to genetics or inheritance patterns. In addition, case reports, reviews, systematic reviews, and meta-analyses were excluded. Two independent reviewers, working autonomously, performed study screening and eligibility assessment to ensure an objective and thorough process. The Modified Newcastle-Ottawa Scale was used to assess the risk of bias. A total of 44 studies were included in the meta-analysis examining the association between genetic variants and 25,347 endometriosis patients compared with 47,312 controls. Data synthesis was carried out using a combination of random-effects meta-analysis, narrative synthesis, and functional enrichment analysis.

Results

Fifty-two studies were included in the analysis of genetic variants and gene expression patterns. Meta-analysis of genetic variant studies (n=44) showed a significant association with endometriosis risk, with a pooled odds ratio of 1.50 (95% confidence interval (CI) 1.22–1.86; I² = 82.1%). Quantitative synthesis of the gene expression studies (n=8) yielded an overall effect estimate of standardised mean difference (SMD) of 0.78 (95% confidence interval (CI) −3.49 to 5.05; I² = 98.4%). Analysis indicated gene expression was heterogeneous, with qualitative assessment showing a wide range of genes recurrently dysregulated across studies. Functional pathway analysis highlighted extracellular signalling, inflammation, cellular stress responses, and growth-factor-dependent pathways as central processes implicated in the pathophysiology of endometriosis. Files Suppl Info 1 Protocol.pdf Files (12.4 MB) | Name | Size | Download all | |---|---|---| | md5:0c9d2be5f902106e4451358c92ef1499 | 8.5 kB | Download | | md5:3e5feac53ab8b59dad995fd553cf74c2 | 187.2 kB | Preview Download | | md5:a9548bc9739095c975374ab57b33991d | 50.2 kB | Download | | md5:11443c55a11bf59d07aa85fc31beb95f | 23.9 kB | Preview Download | | md5:947c09ffc5eb5c372cfaa83015fcb736 | 8.3 kB | Download | | md5:70add236b5304fe3858a2223578ba830 | 48.6 kB | Preview Download | | md5:f8958cada7001913b8e4a1d414ad8897 | 335.5 kB | Preview Download | | md5:653498374839bf0849bdabc58e6b8373 | 9.3 kB | Preview Download | | md5:ff8003c47d2bbae5d0ae6ac21cdb9bd7 | 11.4 kB | Download | | md5:56ff9e45bea4fb11466928a7fe0d26f0 | 2.3 MB | Download | | md5:4bc8a62dce80813b0499f0b43bfdca36 | 316.6 kB | Download | | md5:316869b90091112b2655207bac40af6b | 2.2 MB | Download | | md5:1b22d7b9bb8a34bbbe9bc2236f43afd6 | 20.3 kB | Download | | md5:a3d04c424714bbc6a838c123f7a92092 | 6.3 MB | Download | | md5:de1129a7ad249786f4b2e60d24b701bf | 313.9 kB | Download | | md5:29126cdf3128afb98bceb9edb73392b6 | 39.7 kB | Download | | md5:b0191351d6eb1708bcfb574d960d7694 | 58.5 kB | Download | | md5:940992a3847551cada0dc2875e0a37e5 | 65.8 kB | Preview Download | | md5:557fa78468c56045d47ba9e3494c0fd6 | 16.7 kB | Download | | md5:1b62942398caace0669a023fb18066fe | 5.0 kB | Preview Download | | md5:bb40c2e479fe8f7fa15ab6ce4d2b5414 | 8.7 kB | Preview Download | | md5:a59d50fcf0e0733ad88b91d0839c65df | 8.7 kB | Download | Additional details Dates - Available - 2026-02-13Supplementary data

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