Unveiling Potential Blood Markers for Endometriosis Through the Integration and Experimental Validation of Immune Cell Traits Genome and Genome-Wide Associated Data

Mei J, Jiang XY, Zhang B, Wang L, Zhang AX, Li JJ, Chen SX, Xu X, Hu JJ, Zhou SG
2025 · W7006707721
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This study used two-sample Mendelian randomization on GWAS summary data to assess causal relationships between 731 immune cell traits and endometriosis, applying inverse variance weighting as the primary method alongside weighted median and MR-Egger. After P-value correction, CD28 expression on CD28+ double-negative (CD4−CD8−) immune cells showed a suggestive causal association with endometriosis, with concordant trends across sensitivity analyses, although statistical support varied by method. The authors also performed flow cytometry and reported increased CD28 on CD28+ DN cells in the ectopic endometrial tissue of endometriosis patients, which they used to experimentally validate the immune trait signal. This paper is centrally about endometriosis — it integrates immune-cell immune-trait MR with flow-cytometry validation to identify candidate immune blood/cell biomarkers for endometriosis.

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Abstract

Jie Mei,1– 3,* Xi-Ya Jiang,1,2,* Bin Zhang,4,* Li Wang,5 Ai-Xi Zhang,6 Jie-Jie Li,1– 3 Shun-Xia Chen,1,2 Xiao Xu,1,2 Jing‑Jing Hu,7 Shu-Guang Zhou1– 3 1Department 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; 2Department of Gynecology, Anhui Women and Children’s Medical Center, Hefei, Anhui, 230001, People’s Republic of China; 3Department of Gynecology, Linquan Maternity and Child Healthcare Hospital, Fuyang, Anhui, 236400, People’s Republic of China; 4Department of Scientific Research, Hefei Maternity and Child Healthcare Hospital, Hefei, Anhui, 230001, People’s Republic of China; 5Department of Clinical Laboratory, Linquan Maternity and Child Healthcare Hospital, Fuyang, Anhui, 236400, People’s Republic of China; 6Department of Public Health, Linquan Maternity and Child Healthcare Hospital, Fuyang, Anhui, 236400, People’s Republic of China; 7Department of reproduction, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, 230032, People’s Republic of China*These authors contributed equally to this workCorrespondence: Shu-Guang Zhou; Jing‑Jing Hu, Email [email protected]; [email protected]: While endometriosis (EM) has been previously associated with multiple immune factors, the causal relationship underlying these associations remains unclear.Objective: 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).Methods: 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.Results: After P-value correction, our two-sample MR showed that CD28 on CD28+ DN (CD4-CD8-) had a suggestive causal relationship with EM (β =0.040, 95% CI =1.02– 1.06, P =0.00029, PFDR = 0.1984). The results of the other two main methods were similar: Weighted median (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). The flow cytometry results indicated that the expression level of CD28 on CD28+ DN (CD4-CD-8) was significantly increased in the ectopic intima of EM patients.Conclusion: 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.Keywords: endometriosis, Mendelian randomization, immune cell traits, flow cytometry
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International Journal of Women's Health (Mar 2025) Unveiling Potential Blood Markers for Endometriosis Through the Integration and Experimental Validation of Immune Cell Traits Genome and Genome-Wide Associated Data Abstract Jie Mei,1– 3,* Xi-Ya Jiang,1,2,* Bin Zhang,4,* Li Wang,5 Ai-Xi Zhang,6 Jie-Jie Li,1– 3 Shun-Xia Chen,1,2 Xiao Xu,1,2 Jing‑Jing Hu,7 Shu-Guang Zhou1– 3 1Department 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; 2Department of Gynecology, Anhui Women and Children’s Medical Center, Hefei, Anhui, 230001, People’s Republic of China; 3Department of Gynecology, Linquan Maternity and Child Healthcare Hospital, Fuyang, Anhui, 236400, People’s Republic of China; 4Department of Scientific Research, Hefei Maternity and Child Healthcare Hospital, Hefei, Anhui, 230001, People’s Republic of China; 5Department of Clinical Laboratory, Linquan Maternity and Child Healthcare Hospital, Fuyang, Anhui, 236400, People’s Republic of China; 6Department of Public Health, Linquan Maternity and Child Healthcare Hospital, Fuyang, Anhui, 236400, People’s Republic of China; 7Department of reproduction, The First Affiliated Hospital of Anhui Medical University, Hefei, Anhui, 230032, People’s Republic of China*These authors contributed equally to this workCorrespondence: Shu-Guang Zhou; Jing‑Jing Hu, Email [email protected]; [email protected]: While endometriosis (EM) has been previously associated with multiple immune factors, the causal relationship underlying these associations remains unclear.Objective: 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).Methods: 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.Results: After P-value correction, our two-sample MR showed that CD28 on CD28+ DN (CD4-CD8-) had a suggestive causal relationship with EM (β =0.040, 95% CI =1.02– 1.06, P =0.00029, PFDR = 0.1984). The results of the other two main methods were similar: Weighted median (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). The flow cytometry results indicated that the expression level of CD28 on CD28+ DN (CD4-CD-8) was significantly increased in the ectopic intima of EM patients.Conclusion: 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.Keywords: endometriosis, Mendelian randomization, immune cell traits, flow cytometry

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