Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome.

Abstract

Polycystic ovarian syndrome (PCOS) is the most common reproductive metabolic disorder in women of reproductive age. However, the underlying mechanism is unclear, because the main symptoms vary with age and the pathogenesis is complex and multifactorial. In order to explore the gene expression and regulation networks, and identify potential biomarkers for diagnosis and treatment of PCOS, we conducted whole RNA sequencing of protein-coding genes, lncRNAs, and miRNAs in peripheral blood with case-control design. RNA sequencing and weighted gene co-expression network analysis (WGCNA) were performed on four pairs of PCOS cases and control peripheral blood samples. The results showed that there were significant differences in the expression levels of 341 mRNAs, 252 lncRNAs and 47 miRNAs between PCOS patients and control groups. Bioinformatics analysis showed that these differentially expressed genes (DEGs) were mainly involved in the metabolic, immune, endocrine, and nervous systems, and also identified potential WGCNA module related with PCOS. The DEGs of PCOS as reported in other published literatures were used to verify our DEGs in this study. These results suggest that the ceRNA regulatory relationship between miR-17-5p, LINC02213 and FCGR1A, the trans-regulatory relationship between RP11-405F3.4:IL1R1 and RP11-405F3.4:IL27, and a hub lncRNA of LINC02649 in core regulatory network, which have significant potential for PCOS research. We constructed the core WGCNA module of PCOS from the whole transcriptome of human peripheral blood and characterized the key gene characteristics of PCOS. These findings provide key insights into the candidate characteristics and mechanism elucidation of PCOS.

Supplementary information: The online version contains supplementary material available at 10.1007/s43657-024-00183-9.