Identification of genes associated with testicular germ cell tumor susceptibility through a transcriptome-wide association study.

ABSTRACT: Transcriptome-wide association studies (TWASs) have the potential to identify susceptibility genes associated with testicular germ cell tumors (TGCTs). We conducted a comprehensive TGCT TWAS by integrating genome-wide association study (GWAS) summary data with predicted expression models from normal testis, TGCT tissues, and a cross-tissue panel that encompasses shared regulatory features across 22 normal tissues, including the testis. Gene associations were evaluated while accounting for variant-level effects from GWASs, followed by fine-mapping analyses in regions exhibiting multiple TWAS signals, and finally supplemented by colocalization analysis. Expression and protein patterns of identified TWAS genes were further examined in relevant tissues. Our analysis tested 19,805 gene-disease

SUBMITTER: Ugalde-Morales E 

PROVIDER: S-EPMC11947167 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature