Using bioinformatics analysis and experimental verification, researchers sought to investigate the potential genes implicated in the pathogenesis of non-obstructive azoospermia (NOA).

GSE9210 gene expression profiles were obtained from the Gene Expression Omnibus (GEO) collection. DEGs (differentially expressed genes) were discovered. They ran function enrichment analysis, built a protein-protein interaction (PPI) network, and found hub genes. The regulatory network of miRNA-hub genes was also built. Finally, the expression level of CEP55 was confirmed by RT-qPCR and Western blot, and the receiver operating characteristic (ROC) curve was used to assess its diagnostic value.

There were 626 DEGs found, including 11 upregulated and 615 downregulated genes. These DEGs were highly enriched in spermatogenesis, fertilization, meiotic cell cycle, flagellated sperm motility, sperm capacitation, spermatid nucleus differentiation, and male meiotic nuclear differentiation, according to function enrichment studies. CCNB2, BUB1, TOP2A, BIRC5, CENPF, PBK, NCAPG, DLGAP5, NUF2, and CEP55 were identified as the top ten hub genes. The miRNAs hsa-miRNA-449a, hsa-miRNA-34c-5p, and hsa-miRNA-34b-5p were predicted to be involved in NOA. CEP55 expression was considerably lower in patients with NOA compared to those with OA throughout the validation stage. CEP55 had a strong diagnostic value for NOA, according to ROC analysis, and the combination of CEP55, FSH, and mean testicular volume improved prediction performance.

The research discovered important genes linked to NOA and its biological roles. Furthermore, CEP55 may play a key role in the aetiology of NOA, providing new insights towards NOA targeted treatment.