Lin Rui, Zheng Saihua, Su Haiyu, Wang Guiying, Li Xuelian, Lu Chenqi
Department of Biostatistics and Computational Biology, State Key Laboratory of Genetic Engineering, Shanghai Key Laboratory of Female Reproductive Endocrine Related Diseases, Obstetrics and Gynecology Hospital, School of Life Sciences, Fudan University, Shanghai, 200433 China.
Gynecology Department, The First Hospital of PuTian City, Fujian, 351100 China.
Phenomics. 2024 Oct 16;4(6):570-583. doi: 10.1007/s43657-024-00183-9. eCollection 2024 Dec.
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 , and , the -regulatory relationship between : and :, and a hub lncRNA of 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.
The online version contains supplementary material available at 10.1007/s43657-024-00183-9.
多囊卵巢综合征(PCOS)是育龄女性中最常见的生殖代谢紊乱疾病。然而,其潜在机制尚不清楚,因为主要症状随年龄而异,且发病机制复杂且多因素。为了探索基因表达和调控网络,并确定PCOS诊断和治疗的潜在生物标志物,我们采用病例对照设计对外周血中的蛋白质编码基因、长链非编码RNA(lncRNA)和微小RNA(miRNA)进行了全RNA测序。对四对PCOS病例和对照外周血样本进行了RNA测序和加权基因共表达网络分析(WGCNA)。结果显示,PCOS患者与对照组之间341个mRNA、252个lncRNA和47个miRNA的表达水平存在显著差异。生物信息学分析表明,这些差异表达基因(DEG)主要涉及代谢、免疫、内分泌和神经系统,还确定了与PCOS相关的潜在WGCNA模块。本研究中使用其他已发表文献报道的PCOS的DEG来验证我们的DEG。这些结果表明, 、 与 之间的ceRNA调控关系, 与 之间的 -调控关系,以及核心调控网络中一个关键的lncRNA,在PCOS研究中具有重要潜力。我们从人类外周血的全转录组构建了PCOS的核心WGCNA模块,并表征了PCOS的关键基因特征。这些发现为PCOS的候选特征和机制阐明提供了关键见解。
在线版本包含可在10.1007/s43657-024-00183-9获取的补充材料。