{"paper_id":"c3057893-de96-4d2a-91ba-2e1bf0232ec6","body_text":"Identification and Validation of Potential Immune-Related Genes for Endometriosis\nYi Zhang, Lulu Wu, Wanjing Yuan, and Zhen Ren contributed equally to this work.\nFunding: This study was supported by funding from the Scientific Research Project of the Hunan Provincial Health Commission (No. D202305017387), the Natural Science Foundation of Hunan Province (No. 2024JJ9444), and the Scientific Research Project of the Hunan Provincial Administration of Traditional Chinese Medicine (No. A2024039).\nABSTRACT\nObjective\nThis study aimed to identify and validate potential immune-related genes in endometriosis (Ems) through comprehensive bioinformatics analysis and immunohistochemistry (IHC) verification.\nDesign\nUsing data from the GEO database, single-cell RNA sequencing (scRNA) data and traditional bulk RNA sequencing data were analyzed to identify differentially expressed genes related to the immune system. Immunological analysis confirmed alterations in immune cells associated with Ems. Machine learning techniques were employed to identify characteristic immune genes of eutopic and ectopic endometria, which were then validated through IHC experiments.\nMain Outcome Measures\nImmunological analysis revealed distinct variations in the enrichment of macrophages and NK cells in Ems. Functional enrichment analysis revealed a decrease in NK cell toxicity in both ectopic and eutopic endometria, activation of M2 macrophages in the ectopic endometrium supporting the survival of ectopic endothelial cells, and the presence of lipid antigens and signaling between immune cells facilitating the development of Ems. Machine learning algorithms revealed that TGFBR1 is a characteristic immune gene associated with the eutopic endometrium and that GIMAP4 is associated with the ectopic endometrium; this conclusion was also confirmed by IHC.\nResults\nMacrophage and NK cell enrichment was significantly increased in endometria from patients with Ems. TGFBR1 is a characteristic immune gene associated with the eutopic endometrium, whereas GIMAP4 is associated with the ectopic endometrium.\nConclusion\nThese findings provide new insights for the clinical diagnosis and selection of immune-related targets for Ems.\nConflicts of Interest\nThe authors declare no conflicts of interest.\nData Availability Statement\nGene expression data have been deposited in the NCBI Gene Expression Omnibus and can be accessed from GSE5108, GSE11691, GSE25628, and GSE134056. All the samples from humans are considered identifiable and subject to secure storage regulations. Data will be made available upon reasonable request to the corresponding author, and this will require formalization of a data transfer agreement.","source_license":"CC0","license_restricted":false}