Jie Mei, Xi-Ya Jiang, Bin Zhang, Li Wang, Ai-Xi Zhang, Jie-Jie Li, Shun-Xia Chen, Xiao Xu, Jing-Jing Hu, Shu-Guang Zhou
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Peripheral blood was obtained from EM patients, and the positive immune cell phenotype was confirmed using flow cytometry.</p><p><strong>Results: </strong>After <i>P-value</i> correction, our two-sample MR showed that <i>CD28 on CD28+ DN (CD4-CD8-)</i> had a suggestive causal relationship with EM (β =0.040, 95% CI =1.02-1.06, <i>P</i> =0.00029, <i>P<sub>FDR</sub></i> = 0.1984). The results of the other two main methods were similar: Weighted median (OR =1.031, 95% CI =1.00-1.07, <i>P</i> =0.082); MR-Egger (OR =1.032, 95% CI =1.10-1.06, <i>P</i> =0.044). The flow cytometry results indicated that the expression level of <i>CD28 on CD28+ DN (CD4-CD-8)</i> was significantly increased in the ectopic intima of EM patients.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":14356,"journal":{"name":"International Journal of Women's Health","volume":"17 ","pages":"845-853"},"PeriodicalIF":2.5000,"publicationDate":"2025-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11930248/pdf/","citationCount":"0","resultStr":"{\"title\":\"Unveiling Potential Blood Markers for Endometriosis Through the Integration and Experimental Validation of Immune Cell Traits Genome and Genome-Wide Associated Data.\",\"authors\":\"Jie Mei, Xi-Ya Jiang, Bin Zhang, Li Wang, Ai-Xi Zhang, Jie-Jie Li, Shun-Xia Chen, Xiao Xu, Jing-Jing Hu, Shu-Guang Zhou\",\"doi\":\"10.2147/IJWH.S509722\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>While endometriosis (EM) has been previously associated with multiple immune factors, the causal relationship underlying these associations remains unclear.</p><p><strong>Objective: </strong>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).</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>After <i>P-value</i> correction, our two-sample MR showed that <i>CD28 on CD28+ DN (CD4-CD8-)</i> had a suggestive causal relationship with EM (β =0.040, 95% CI =1.02-1.06, <i>P</i> =0.00029, <i>P<sub>FDR</sub></i> = 0.1984). The results of the other two main methods were similar: Weighted median (OR =1.031, 95% CI =1.00-1.07, <i>P</i> =0.082); MR-Egger (OR =1.032, 95% CI =1.10-1.06, <i>P</i> =0.044). The flow cytometry results indicated that the expression level of <i>CD28 on CD28+ DN (CD4-CD-8)</i> was significantly increased in the ectopic intima of EM patients.</p><p><strong>Conclusion: </strong>Our study demonstrated a causal relationship between immune traits and EM, and the results were verified by clinical samples. 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引用次数: 0
摘要
背景：虽然子宫内膜异位症（EM）以前与多种免疫因素有关，但这些关联背后的因果关系尚不清楚。目的：本研究采用双样本孟德尔随机化（MR）方法，基于全基因组关联研究（GWAS）的表格数据，探讨731种免疫细胞性状与EM之间的因果关系。方法：MR方法包括方差逆加权（IVW）、加权中位数（WM）、MR- egger、加权模型和简单模型。IVW被用作判断因果关系的主要方法。取EM患者外周血，流式细胞术证实阳性免疫细胞表型。结果：经P值校正后，我们的双样本MR显示CD28对CD28+ DN （CD4-CD8-）与EM有暗示的因果关系（β =0.040, 95% CI =1.02-1.06, P =0.00029, PFDR = 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）；egger （OR =1.032, 95% CI =1.10-1.06, P =0.044）。流式细胞术结果显示，EM患者异位内膜中CD28+ DN （CD4-CD-8）表达水平显著升高。结论：我们的研究证明了免疫性状与EM之间的因果关系，并且结果得到了临床样本的验证。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。
Unveiling Potential Blood Markers for Endometriosis Through the Integration and Experimental Validation of Immune Cell Traits Genome and Genome-Wide Associated Data.
Background: 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.
期刊介绍：
International Journal of Women''s Health is an international, peer-reviewed, open access, online journal. Publishing original research, reports, editorials, reviews and commentaries on all aspects of women''s healthcare including gynecology, obstetrics, and breast cancer. Subject areas include: Chronic conditions including cancers of various organs specific and not specific to women Migraine, headaches, arthritis, osteoporosis Endocrine and autoimmune syndromes - asthma, multiple sclerosis, lupus, diabetes Sexual and reproductive health including fertility patterns and emerging technologies to address infertility Infectious disease with chronic sequelae including HIV/AIDS, HPV, PID, and other STDs Psychological and psychosocial conditions - depression across the life span, substance abuse, domestic violence Health maintenance among aging females - factors affecting the quality of life including physical, social and mental issues Avenues for health promotion and disease prevention across the life span Male vs female incidence comparisons for conditions that affect both genders.
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