Jiayi Guo,* Yongjun Wang,* Guansheng Chen

Department of Gynecology and Obstetrics, Beijing Jishuitan Hospital, Capital Medical University, Beijing, 100035, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Jiayi Guo, Department of Gynecology and Obstetrics, Beijing Jishuitan Hospital, Capital Medical University, Beijing, 100035, People’s Republic of China, Email goofy1984@126.com

Background: Endometriosis and its associated gynecological diseases such as female infertility and primary ovarian failure (POF), impose a long-term disease burden on women. This study aims to explore the causal relationships between these conditions through a two-sample bidirectional Mendelian randomization (MR) study.
Methods: We utilized large-scale GWAS data and conducted bidirectional MR analyses using methods such as Inverse Variance Weighted (IVW) and MR-Egger to assess the causal relationships between endometriosis and female infertility, POF, amenorrhoea, and oligomenorrhoea.
Results: MR analysis revealed significant causal relationships between endometriosis and female infertility (OR=1.430, 95% CI 1.306– 1.567, P< 0.01) as well as POF (OR=1.348, 95% CI 1.050– 1.731, P=0.019). Reverse MR analysis indicated causal relationships between amenorrhoea (OR=1.076, 95% CI 1.009– 1.148, P=0.026) and female infertility (OR=1.340, 95% CI 1.092– 1.645, P< 0.01) with endometriosis. Sensitivity analyses confirmed the robustness of these findings (heterogeneity: Q_pval> 0.05, pleiotropy: pval> 0.05).
Conclusion: This study suggested that managing endometriosis may help prevent conditions such as female infertility and POF, and vice versa. Future research is needed to confirm these findings in more diverse populations.

Keywords: Endometriosis, primary ovarian failure, female infertility, bidirectional Mendelian randomization, two-sample Mendelian randomization, IVW analysis, sensitivity analysis