Abstract
<title>Abstract</title> <p>Polycystic ovary syndrome (PCOS) is complex endocrine diseases caused by multi-factors, which severely impact patient quality of life. However, the specific molecular mechanisms of the progression process are still unclear. This study aims to identify immune related genes and pathways associated with the onset and progression of PCOS with the goal of developing novel biomarkers to enhance diagnosis and improve patient outcomes. Single-cell RNA sequencing data (GSE336823) was downloaded from the Gene Expression Omnibus (GEO) database for bioinformatics analysis in this study. First, Seurat package of R was used to identify DEGs between blood samples of patients with PCOS cells and normal cells. Then, the functional annotation of DEGs was carried out by Gene Ontology (GO) and REACTOME pathway enrichment analysis. Based on Human Integrated Protein-Protein Interaction rEference (HIPPIE) online tool, we constructed the Protein-Protein Interactions (PPIs) network and modules among DEGs and mined the core genes as well. Furthermore, we constructed the miRNA-hub gene regulatory network and TF-hub gene regulatory network as well as drug-hub gene interaction network. Finally, based on the common DEGs, drug compounds were speculated using the DrugBank. Receiver operating characteristic (ROC) curve analysis performed to predict the diagnostic effectiveness of the hub genes. A total of 958 DEGs (479 up-regulated and 479 down-regulated) are identified in PCOS cells compared with normal cells. GO and REACTOME pathway enrichment analysis implied that response to stimulus, biological regulation, innate immune system and interleukin-10 signaling were associated with PCOS. Hub genes were further extracted which included ANLN, MKI67, AR, PDGFRA, TEX101, MYBBP1A, HSPB1, SLC22A4, NPM3 and RPS5 through PPI network and modules. Furthermore, we illustrated a regulatory network consisting of miRNAs (hsa-miR-548au-5p and hsa-miR-3689b-5p) and TFs (BACH1 and HAND2). Notably, drug compounds for PCOS was suggested, such as Venlafaxine and Umeclidinium. In conclusion, immune related genes and pathways identified in this study may help us understand the potential etiology of the occurrence and development of PCOS.</p>