Transcriptomic signatures for human male infertility

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

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.

• Language: English
• Keywords: idiopathic male infertility, gene expresion, transcriptome, testis, spermatogenesis
• Work type: Article
• Typology: 1.01 - Original Scientific Article
• Organization: MF - Faculty of Medicine; BF - Biotechnical Faculty
• Publication status: Published
• Publication version: Version of Record
• Year: 2023
• Number of pages: Str. 1-8
• Numbering: Vol. 10, art. 1226829
• PID: 20.500.12556/RUL-151977
• UDC: 616.6: 575.111
• ISSN on article: 2296-889X
• DOI: 10.3389/fmolb.2023.1226829
• COBISS.SI-ID: 162230275
• Publication date in RUL: 26.10.2023

Record is a part of a journal

• Title: Frontiers in molecular biosciences
• Shortened title: Front. mol. biosci.
• Publisher: Frontiers Media S.A.
• ISSN: 2296-889X
• COBISS.SI-ID: 523095321

Licences

• License: CC BY 4.0, Creative Commons Attribution 4.0 International
• Link: http://creativecommons.org/licenses/by/4.0/
• Description: This is the standard Creative Commons license that gives others maximum freedom to do what they want with the work as long as they credit the author.

Secondary language

• Language: Slovenian
• Keywords: idiopatska neplodnost moških, izražanje genov, transkriptom, moda, spermatogeneza

Projects

• Funder: ARRS - Slovenian Research Agency
• Project number: P3-0326
• Name: Ginekologija in reprodukcija: Genomika za personalizirano medicino