Genetic Polymorphisms Associated with Endometriosis: A Systematic Review and Meta-Analysis of Heritable Risk Factors

Sulayman, Hikmat, Eze, Emmanuel, Hampshire, Daniel, Guinn, Barbara
2025 · doi:10.5281/zenodo.17078646 · W7080473031
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Abstract

Abstract Endometriosis is a chronic inflammatory condition affecting up to 10% of reproductive-aged women. While factors like retrograde menstruation contribute, only a subset develops the disease, suggesting a genetic component. This study systematically reviewed and meta-analysed genetic polymorphisms associated with endometriosis to identify heritable risk factors. Searches were conducted in PubMed, Cochrane Library, Scopus, Medline, and CINAHL up to March 20, 2025, following PRISMA guidelines. Eligible studies included reproductive-aged women with surgically confirmed endometriosis investigating gene polymorphisms. High-quality studies were meta-analysed in R (v4.4.2). Variants in VEGF, FCRL3, HSD17B1, and regions near NFE2L3 and HOXA10 were significantly associated with disease risk. Sensitivity, subgroup, and meta-regression analyses confirmed robustness, with minimal publication bias observed. These results support a genetic predisposition to endometriosis and highlight variants that may inform risk prediction, early diagnosis, and personalised treatment strategies. Keywords:Endometriosis; Genetics; Gene Polymorphism; Heritability; Systematic Review; Meta-Analysis; Risk Prediction
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Abstract

Endometriosis is a chronic inflammatory condition affecting up to 10% of reproductive-aged women. While factors like retrograde menstruation contribute, only a subset develops the disease, suggesting a genetic component. This study systematically reviewed and meta-analysed genetic polymorphisms associated with endometriosis to identify heritable risk factors. Searches were conducted in PubMed, Cochrane Library, Scopus, Medline, and CINAHL up to March 20, 2025, following PRISMA guidelines. Eligible studies included reproductive-aged women with surgically confirmed endometriosis investigating gene polymorphisms. High-quality studies were meta-analysed in R (v4.4.2). Variants in VEGF, FCRL3, HSD17B1, and regions near NFE2L3 and HOXA10 were significantly associated with disease risk. Sensitivity, subgroup, and meta-regression analyses confirmed robustness, with minimal publication bias observed. These results support a genetic predisposition to endometriosis and highlight variants that may inform risk prediction, early diagnosis, and personalised treatment strategies.

Keywords

Endometriosis; Genetics; Gene Polymorphism; Heritability; Systematic Review; Meta-Analysis; Risk Prediction Files Allam Lecture September 4 2025 Poster Presentation.pdf Files (952.4 kB) | Name | Size | Download all | |---|---|---| | md5:3580b9981cb195cad80f261ec60c424d | 952.4 kB | Preview Download |

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