Zhou Yu, Zhang Deying, Liu Bo, Hu Dong, Shen Lianju, Long Chunlan, Yu Yihang, Lin Tao, Liu Xing, He Dawei, Wei Guanghui
Department of Urology, Children's Hospital of Chongqing Medical University, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing 400014, China.
Chongqing Key Laboratory of Children Urogenital Development and Tissue Engineering, China.
Genes Dis. 2018 Nov 14;6(4):431-440. doi: 10.1016/j.gendis.2018.11.002. eCollection 2019 Dec.
This study aims to determine key genes and pathways that could play important roles in the spermatogenic process of patients with cryptorchidism. The gene expression profile data of GSE25518 was obtained from the Gene Expression Omnibus (GEO) database. Microarray data were analyzed using BRB-Array Tools to identify differentially expressed genes (DEGs) between high azoospermia risk (HAZR) patients and controls. In addition, other analytical methods were deployed, including hierarchical clustering analysis, class comparison between patients with HAZR and the normal control group, gene ontology (GO), Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis, and the construction of a protein-protein interaction (PPI) network. In total, 1015 upregulated genes and 1650 downregulated genes were identified. GO and KEGG analysis revealed enrichment in terms of changes in the endoplasmic reticulum cellular component and the endoplasmic reticulum protein synthetic process in the HAZR group. Furthermore, the arachidonic acid pathway and mTOR pathway were also identified as important pathways, while RICTOR and GPX8 were indentified as key genes involved in the spermatogenic process of patients with cryptorchidism. In present study, we found that changes in the synthesis of endoplasmic reticulum proteins, arachidonic acid and the mTOR pathway are important in the incidence and spermatogenic process of cryptorchidism. GPX8 and RICTOR were also identified as key genes associated with cryptorchidism. Collectively, these data may provide novel clues with which to explore the precise etiology and mechanism underlying cryptorchidism and cryptorchidism-induced human infertility.
本研究旨在确定可能在隐睾症患者精子发生过程中起重要作用的关键基因和信号通路。从基因表达综合数据库(GEO)获取GSE25518的基因表达谱数据。使用BRB-Array Tools分析微阵列数据,以鉴定高无精子症风险(HAZR)患者与对照组之间的差异表达基因(DEG)。此外,还采用了其他分析方法,包括层次聚类分析、HAZR患者与正常对照组之间的类别比较、基因本体(GO)、京都基因与基因组百科全书(KEGG)信号通路富集分析以及蛋白质-蛋白质相互作用(PPI)网络的构建。总共鉴定出1015个上调基因和1650个下调基因。GO和KEGG分析显示,HAZR组在内质网细胞成分变化和内质网蛋白质合成过程方面存在富集。此外,花生四烯酸信号通路和mTOR信号通路也被确定为重要信号通路,而RICTOR和GPX8被确定为参与隐睾症患者精子发生过程的关键基因。在本研究中,我们发现内质网蛋白质合成、花生四烯酸和mTOR信号通路的变化在隐睾症的发病和精子发生过程中具有重要意义。GPX8和RICTOR也被确定为与隐睾症相关的关键基因。总体而言,这些数据可能为探索隐睾症及隐睾症所致人类不育的确切病因和机制提供新线索。