通过双向孟德尔随机化研究子宫内膜异位症、女性不孕症和原发性卵巢功能不全之间的因果关系。

Causal Relationship Between Endometriosis, Female Infertility, and Primary Ovarian Failure Through Bidirectional Mendelian Randomization.

作者信息

Guo Jiayi, Wang Yongjun, Chen Guansheng

机构信息

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

出版信息

Int J Womens Health. 2024 Dec 9;16:2143-2155. doi: 10.2147/IJWH.S488351. eCollection 2024.

DOI:10.2147/IJWH.S488351

PMID:39677553

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11639973/

Abstract

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, <0.01) as well as POF (OR=1.348, 95% CI 1.050-1.731, =0.019). Reverse MR analysis indicated causal relationships between amenorrhoea (OR=1.076, 95% CI 1.009-1.148, =0.026) and female infertility (OR=1.340, 95% CI 1.092-1.645, <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.

摘要

背景

子宫内膜异位症及其相关的妇科疾病，如女性不孕症和原发性卵巢功能衰竭（POF），给女性带来了长期的疾病负担。本研究旨在通过两样本双向孟德尔随机化（MR）研究来探索这些病症之间的因果关系。

方法

我们利用大规模全基因组关联研究（GWAS）数据，并使用逆方差加权（IVW）和MR-Egger等方法进行双向MR分析，以评估子宫内膜异位症与女性不孕症、POF、闭经和月经过少之间的因果关系。

结果

MR分析显示子宫内膜异位症与女性不孕症（优势比[OR]=1.430，95%置信区间[CI] 1.306 - 1.567，P<0.01）以及POF（OR=1.348，95% CI 1.050 - 1.731，P=0.019）之间存在显著的因果关系。反向MR分析表明闭经（OR=1.076，95% CI 1.009 - 1.148，P=0.026）和女性不孕症（OR=1.340，95% CI 1.092 - 1.645，P<0.01）与子宫内膜异位症之间存在因果关系。敏感性分析证实了这些发现的稳健性（异质性：Q_p值>0.05，多效性：P值>0.05）。