Mei Jie, Jiang Xi-Ya, Zhang Bin, Wang Li, Zhang Ai-Xi, Li Jie-Jie, Chen Shun-Xia, Xu Xiao, Hu Jing-Jing, Zhou Shu-Guang
Department of Gynecology, The Fifth Affiliated Clinical College of Anhui Medical University, Maternal and Child Health Center of Anhui Medical University, Hefei, Anhui, 230001, People's Republic of China.
Department of Gynecology, Anhui Women and Children's Medical Center, Hefei, Anhui, 230001, People's Republic of China.
Int J Womens Health. 2025 Mar 19;17:845-853. doi: 10.2147/IJWH.S509722. eCollection 2025.
While endometriosis (EM) has been previously associated with multiple immune factors, the causal relationship underlying these associations remains unclear.
In this study, Two-sample Mendelian randomization (MR) method was employed to investigate the causal relationship between 731 immune cell traits and EM based on tabulated data from genome-wide association studies (GWAS).
MR method includes inverse variance weighting (IVW), the weighted median (WM), MR-Egger, the weighted model, and the simple model. IVW is used as the primary method for judging causal effects. Peripheral blood was obtained from EM patients, and the positive immune cell phenotype was confirmed using flow cytometry.
After correction, our two-sample MR showed that had a suggestive causal relationship with EM (β =0.040, 95% CI =1.02-1.06, =0.00029, = 0.1984). The results of the other two main methods were similar: Weighted median (OR =1.031, 95% CI =1.00-1.07, =0.082); MR-Egger (OR =1.032, 95% CI =1.10-1.06, =0.044). The flow cytometry results indicated that the expression level of was significantly increased in the ectopic intima of EM patients.
Our study demonstrated a causal relationship between immune traits and EM, and the results were verified by clinical samples. The study may provide new biomarkers for the early diagnosis and immunotherapy of EM.
虽然子宫内膜异位症（EM）此前已与多种免疫因素相关，但这些关联背后的因果关系仍不清楚。
在本研究中，采用两样本孟德尔随机化（MR）方法，基于全基因组关联研究（GWAS）的汇总数据，研究731种免疫细胞特征与EM之间的因果关系。
MR方法包括逆方差加权（IVW）、加权中位数（WM）、MR-Egger、加权模型和简单模型。IVW用作判断因果效应的主要方法。从EM患者中获取外周血，并使用流式细胞术确认阳性免疫细胞表型。
校正后，我们的两样本MR显示，与EM存在提示性因果关系（β =0.040，95%CI =1.02-1.06，P =0.00029，I² = 0.1984）。其他两种主要方法的结果相似：加权中位数（OR =1.031，95%CI =1.00-1.07，P =0.082）；MR-Egger（OR =1.032，95%CI =1.10-1.06，P =0.044）。流式细胞术结果表明，EM患者异位内膜中 的表达水平显著升高。
我们的研究证明了免疫特征与EM之间的因果关系，且结果得到临床样本验证。该研究可能为EM的早期诊断和免疫治疗提供新的生物标志物。
