Department of Endocrinology and Metabolism, Subbaiah Institute of Medical Sciences and Research Centre, Shimoga, Karnataka, 577201, India.
Department of Gynaecology and Obstetrics, Subbaiah Institute of Medical Sciences and Research Centre, Shimoga, Karnataka, 577201, India.
Reprod Biol Endocrinol. 2021 Feb 23;19(1):31. doi: 10.1186/s12958-021-00706-3.
To enhance understanding of polycystic ovary syndrome (PCOS) at the molecular level; this investigation intends to examine the genes and pathways associated with PCOS by using an integrated bioinformatics analysis. Based on the expression profiling by high throughput sequencing data GSE84958 derived from the Gene Expression Omnibus (GEO) database, the differentially expressed genes (DEGs) between PCOS samples and normal controls were identified. We performed a functional enrichment analysis. A protein-protein interaction (PPI) network, miRNA- target genes and TF - target gene networks, were constructed and visualized, with which the hub gene nodes were identified. Validation of hub genes was performed by using receiver operating characteristic (ROC) and RT-PCR. Small drug molecules were predicted by using molecular docking. A total of 739 DEGs were identified, of which 360 genes were up regulated and 379 genes were down regulated. GO enrichment analysis revealed that up regulated genes were mainly involved in peptide metabolic process, organelle envelope and RNA binding and the down regulated genes were significantly enriched in plasma membrane bounded cell projection organization, neuron projection and DNA-binding transcription factor activity, RNA polymerase II-specific. REACTOME pathway enrichment analysis revealed that the up regulated genes were mainly enriched in translation and respiratory electron transport and the down regulated genes were mainly enriched in generic transcription pathway and transmembrane transport of small molecules. The top 10 hub genes (SAA1, ADCY6, POLR2K, RPS15, RPS15A, CTNND1, ESR1, NEDD4L, KNTC1 and NGFR) were identified from PPI network, miRNA - target gene network and TF - target gene network. The modules analysis showed that genes in modules were mainly associated with the transport of respiratory electrons and signaling NGF, respectively. We find a series of crucial genes along with the pathways that were most closely related with PCOS initiation and advancement. Our investigations provide a more detailed molecular mechanism for the progression of PCOS, detail information on the potential biomarkers and therapeutic targets.
为了从分子水平上提高对多囊卵巢综合征 (PCOS) 的认识;本研究通过整合生物信息学分析,旨在研究与 PCOS 相关的基因和途径。基于从基因表达综合数据库 (GEO) 数据库中高通量测序数据 GSE84958 获得的表达谱,鉴定了 PCOS 样本和正常对照之间的差异表达基因 (DEGs)。我们进行了功能富集分析。构建并可视化了蛋白质-蛋白质相互作用 (PPI) 网络、miRNA-靶基因和 TF-靶基因网络,确定了枢纽基因节点。通过使用接收器工作特征 (ROC) 和 RT-PCR 对枢纽基因进行验证。通过分子对接预测小分子药物。共鉴定出 739 个 DEGs,其中 360 个基因上调,379 个基因下调。GO 富集分析显示,上调基因主要参与肽代谢过程、细胞器包膜和 RNA 结合,而下调基因则显著富集于细胞膜边界细胞突起组织、神经元突起和 DNA 结合转录因子活性、RNA 聚合酶 II 特异性。REACTOME 途径富集分析显示,上调基因主要富集于翻译和呼吸电子传递,而下调基因主要富集于通用转录途径和小分子跨膜转运。从 PPI 网络、miRNA-靶基因网络和 TF-靶基因网络中鉴定出前 10 个枢纽基因 (SAA1、ADCY6、POLR2K、RPS15、RPS15A、CTNND1、ESR1、NEDD4L、KNTC1 和 NGFR)。模块分析表明,模块中的基因主要与呼吸电子传递和信号 NGF 的运输有关。我们发现了一系列与 PCOS 起始和进展最密切相关的关键基因和途径。我们的研究为 PCOS 的进展提供了更详细的分子机制,为潜在的生物标志物和治疗靶点提供了详细信息。