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.17078645 · W7080603874
Systematic review / meta-analysis OA: green CC0
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This systematic review and meta-analysis identified significant associations between endometriosis risk and genetic polymorphisms in VEGF, FCRL3, HSD17B1, NFE2L3, and HOXA10 regions.

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This systematic review and meta-analysis investigated heritable risk factors for endometriosis by synthesizing data from high-quality studies on genetic polymorphisms in reproductive-aged women. The authors identified significant associations between disease risk and variants in the VEGF, FCRL3, HSD17B1 genes, as well as regions near NFE2L3 and HOXA10. Sensitivity and subgroup analyses confirmed the robustness of these findings with minimal publication bias, supporting a strong genetic predisposition to the condition. This paper is centrally about endometriosis — specifically identifying key genetic polymorphisms that contribute to disease susceptibility and potential risk prediction models.

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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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