Bioinformatic identification of key genes and molecular pathways in the spermatogenic process of cryptorchidism

• Main Authors: Yu Zhou, Deying Zhang, Bo Liu, Dong Hu, Lianju Shen, Chunlan Long, Yihang Yu, Tao Lin, Xing Liu, Dawei He, Guanghui Wei
• Format: Article
• Language: English
• Published: Elsevier 2019-12-01
• Series: Genes and Diseases
• Online Access: http://www.sciencedirect.com/science/article/pii/S2352304218301326

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. Keywords: Arachidonic acid pathway, Bioinformatics, Cryptorchidism, Differentially expressed genes, GPX8, mTOR, RITOR, Spermatogenic