Department of Gynecology, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing Maternal and Child Health Care Hospital, Beijing, 100026, China.
BMC Womens Health. 2022 May 18;22(1):184. doi: 10.1186/s12905-022-01765-3.
To determine the potential diagnostic markers and extent of immune cell infiltration in endometriosis (EMS).
Two published profiles (GSE7305 and GSE25628 datasets) were downloaded, and the candidate biomarkers were identified by support vector machine recursive feature elimination analysis and a Lasso regression model. The diagnostic value and expression levels of biomarkers in EMS were verified by quantitative reverse transcription polymerase chain reaction (qRT-PCR) and western blotting, then further validated in the GSE5108 dataset. CIBERSORT was used to estimate the composition pattern of immune cell components in EMS.
One hundred and fifty-three differential expression genes (DEGs) were identified between EMS and endometrial with 83 upregulated and 51 downregulated genes. Gene sets related to arachidonic acid metabolism, cytokine-cytokine receptor interactions, complement and coagulation cascades, chemokine signaling pathways, and systemic lupus erythematosus were differentially activated in EMS compared with endometrial samples. Aquaporin 1 (AQP1) and ZW10 binding protein (ZWINT) were identified as diagnostic markers of EMS, which were verified using qRT-PCR and western blotting and validated in the GSE5108 dataset. Immune cell infiltrate analysis showed that AQP1 and ZWINT were correlated with M2 macrophages, NK cells, activated dendritic cells, T follicular helper cells, regulatory T cells, memory B cells, activated mast cells, and plasma cells.
AQP1 and ZWINT could be regarded as diagnostic markers of EMS and may provide a new direction for the study of EMS pathogenesis in the future.
确定子宫内膜异位症（EMS）中潜在的诊断标志物和免疫细胞浸润程度。
下载了两个已发表的数据集（GSE7305 和 GSE25628），通过支持向量机递归特征消除分析和 Lasso 回归模型确定候选生物标志物。通过定量逆转录聚合酶链反应（qRT-PCR）和蛋白质印迹法验证了生物标志物在 EMS 中的诊断价值和表达水平，然后在 GSE5108 数据集进一步验证。使用 CIBERSORT 估计 EMS 中免疫细胞成分的组成模式。
在 EMS 和子宫内膜之间鉴定出 153 个差异表达基因（DEGs），其中 83 个上调和 51 个下调基因。与子宫内膜样本相比，EMS 中与花生四烯酸代谢、细胞因子-细胞因子受体相互作用、补体和凝血级联、趋化因子信号通路和系统性红斑狼疮相关的基因集被差异激活。水通道蛋白 1（AQP1）和 ZW10 结合蛋白（ZWINT）被鉴定为 EMS 的诊断标志物，通过 qRT-PCR 和蛋白质印迹法进行了验证，并在 GSE5108 数据集得到了验证。免疫细胞浸润分析表明，AQP1 和 ZWINT 与 M2 巨噬细胞、NK 细胞、激活的树突状细胞、滤泡辅助 T 细胞、调节性 T 细胞、记忆 B 细胞、激活的肥大细胞和浆细胞有关。
AQP1 和 ZWINT 可以作为 EMS 的诊断标志物，并可能为未来 EMS 发病机制的研究提供新的方向。
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