20.500.12556/DiRROS-32211 Transcriptomic signatures for human male infertility Introduction: Male infertility is a common, complex disorder. A better understanding of pathogenesis and etiology is needed for timely diagnosis and treatment. The aim of this study, therefore, was to identify genes involved in the pathogenesis of idiopathic male infertility based on data from transcriptomic level supported with data from genomic level. Materials and methods: First, we performed whole gene expression analysis in 20 testis biopsy samples of patients with severely impaired (10) and normal spermatogenesis (10). Further, we have performed systematic review of comparable male infertility studies and overlapped the most significantly expressed genes identified in our study with the most differentially expressed genes from selected studies. Gene Ontology analysis and KEGG functional enrichment have been performed with Enrichr analysis tool. Additionally, we have overlapped these genes with the genes where rare variants have been identified previously. Results: In 10 patients with severely impaired spermatogenesis and 10 controls, we identified more than 1,800 differentially expressed genes (p < 0.001). With the systematic review of three previously performed microarray studies that have met inclusion criteria we identified 257 overlapped differentialy expressed genes (144 downregulated and 113 upregulated). Intersection of genes from transcriptomic studies with genes with identified rare variants revealed a total of 7 genes linked with male infertility phenotype (CYP11A1, CYP17A1, RSPH3, TSGA10, AKAP4, CCIN, NDNF). Conclusion: Our comprehensive study highlighted the role of four genes in pathogenesis of male infertility and provided supporting evidence for three promising candidate genes which dysfunction may result in a male infertility disorder. idiopathic male infertility gene expresion transcriptome testis spermatogenesis idiopatska neplodnost moških izražanje genov transkriptom moda spermatogeneza true false true Angleški jezik Slovenski jezik Neznano 2026-09-01 11:25:07 2026-09-01 11:25:07 2026-09-02 04:16:04 0000-00-00 00:00:00 2023 0 0 Nasl. z nasl. zaslona; Opis vira z dne 25. 8. 2023; str. 1-8 [article. no.] 1226829 Vol. 10 2023 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 0000-00-00 616.6: 575.111 2296-889X 10.3389/fmolb.2023.1226829 162230275 RAZ_Hodzic_Alenka_2023.pdf RAZ_Hodzic_Alenka_2023.pdf 1 D5C47CD60110AF0F825057C8B9B1FCE0 3eb01e76ed75ecd6e8f31d8fe68baf1bcc142ad07c5fa641b9cffe582caf4ac3 2803e2ad-a5e7-11f1-8a94-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=50268 https://www.frontiersin.org/articles/10.3389/fmolb.2023.1226829/full 1 07c733bf-a5e7-11f1-8a94-001a4af901a5 https://dirros.openscience.si/Dokument.php?lang=slv&id=50266 Univerzitetni klinični center Ljubljana 0 0 0