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

Povzetek

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.

Ključne besede

idiopathic male infertility;gene expresion;transcriptome;testis;spermatogenesis;

Podatki

Jezik: Angleški jezik
Leto izida:
Tipologija: 1.01 - Izvirni znanstveni članek
Organizacija: UL MF - Medicinska fakulteta
UDK: 616.6: 575.111
COBISS: 162230275 Povezava se bo odprla v novem oknu
ISSN: 2296-889X
Št. ogledov: 8
Št. prenosov: 3
Ocena: 0 (0 glasov)
Metapodatki: JSON JSON-RDF JSON-LD TURTLE N-TRIPLES XML RDFA MICRODATA DC-XML DC-RDF RDF

Ostali podatki

Sekundarni jezik: Slovenski jezik
Sekundarne ključne besede: idiopatska neplodnost moških;izražanje genov;transkriptom;moda;spermatogeneza;
Vrsta dela (COBISS): Članek v reviji
Strani: str. 1-8
Letnik: ǂVol. ǂ10
Zvezek: [article. no.] 1226829
Čas izdaje: 2023
DOI: 10.3389/fmolb.2023.1226829
ID: 20488458