Integrative bioinformatics analysis to identify novel biomarkers associated with non-obstructive azoospermia.

Aim: This study aimed to identify autophagy-related genes (ARGs) associated with non-obstructive azoospermia and explore the underlying molecular mechanisms.

Methods: Two datasets associated with azoospermia were downloaded from the Gene Expression Omnibus database, and ARGs were obtained from the Human Autophagy-dedicated Database. Autophagy-related differentially expressed genes were identified in the azoospermia and control groups. These genes were subjected to Gene Ontology and Kyoto Encyclopedia of Genes and Genomes, protein-protein interaction (PPI) network, and functional similarity analyses. After identifying the hub genes, immune infiltration and hub gene-RNA-binding protein (RBP)-transcription factor (TF)-miRNA-drug interactions were analyzed.

Results: A total 46 differentially expressed ARGs were identified between the azoospermia and control groups. These genes were enriched in autophagy-associated functions and pathways. Eight hub genes were selected from the PPI network. Functional similarity analysis revealed that may play a key role in azoospermia. Immune cell infiltration analysis revealed that activated dendritic cells were significantly decreased in the azoospermia group compared to those in the control groups. Hub genes, especially , , , and were strongly correlated with immune cell infiltration. Finally, a hub gene-miRNA-TF-RBP-drug network was constructed.

Conclusion: The eight hub genes, including , , , , and , may serve as biomarkers for the diagnosis and treatment of azoospermia. The study findings suggest potential targets and mechanisms for the occurrence and development of this disease.