Transcriptomic signatures for human male infertility

Hodžić, Alenka (avtor), Maver, Aleš (avtor), Zorn, Branko (avtor), Petrovič, Danijel (avtor), Kunej, Tanja (avtor), Peterlin, Borut (avtor)

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.

• Jezik: Angleški jezik
• Ključne besede: idiopathic male infertility, gene expresion, transcriptome, testis, spermatogenesis
• Vrsta gradiva: Članek v reviji
• Tipologija: 1.01 - Izvirni znanstveni članek
• Organizacija: MF - Medicinska fakulteta ; BF - Biotehniška fakulteta
• Status publikacije: Objavljeno
• Različica publikacije: Objavljena publikacija
• Leto izida: 2023
• Št. strani: Str. 1-8
• Številčenje: Vol. 10, art. 1226829
• PID: 20.500.12556/RUL-151977
• UDK: 616.6: 575.111
• ISSN pri članku: 2296-889X
• DOI: 10.3389/fmolb.2023.1226829
• COBISS.SI-ID: 162230275
• Datum objave v RUL: 26.10.2023

Gradivo je del revije

• Naslov: Frontiers in molecular biosciences
• Skrajšan naslov: Front. mol. biosci.
• Založnik: Frontiers Media S.A.
• ISSN: 2296-889X
• COBISS.SI-ID: 523095321

Licence

• Licenca: CC BY 4.0, Creative Commons Priznanje avtorstva 4.0 Mednarodna
• Povezava: http://creativecommons.org/licenses/by/4.0/deed.sl
• Opis: To je standardna licenca Creative Commons, ki daje uporabnikom največ možnosti za nadaljnjo uporabo dela, pri čemer morajo navesti avtorja.

Sekundarni jezik

• Jezik: Slovenski jezik
• Ključne besede: idiopatska neplodnost moških, izražanje genov, transkriptom, moda, spermatogeneza

Projekti

• Financer: ARRS - Agencija za raziskovalno dejavnost Republike Slovenije
• Številka projekta: P3-0326
• Naslov: Ginekologija in reprodukcija: Genomika za personalizirano medicino