Dataset Information
A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Ontology highlight
ABSTRACT:
SUBMITTER: Guzman-Jimenez A
PROVIDER: S-EPMC11645127 | biostudies-literature | 2024
REPOSITORIES: biostudies-literature
Publications
A comprehensive study of common and rare genetic variants in spermatogenesis-related loci identifies new risk factors for idiopathic severe spermatogenic failure.
Human reproduction open 20241113 4
<h4>Study question</h4>Can genome-wide genotyping data be analysed using a hypothesis-driven approach to enhance the understanding of the genetic basis of severe spermatogenic failure (SPGF) in male infertility?<h4>Summary answer</h4>Our findings revealed a significant association between SPGF and the <i>SHOC1</i> gene and identified three novel genes (<i>PCSK4</i>, <i>AP3B1</i>, and <i>DLK1</i>) along with 32 potentially pathogenic rare variants in 30 genes that contribute to this condition.<h4 ...[more]
