Subphenotype meta-analysis of testicular cancer genome-wide association study data suggests a role for RBFOX family genes in cryptorchidism susceptibility
Human Reproduction Apr 10, 2018
Wang Y, et al. - Researchers investigated whether subphenotype analysis of genome-wide association study (GWAS) data from subjects with testicular germ cell tumor (TGCT) can provide insight into cryptorchidism (undescended testis, UDT) susceptibility. In this work, common suggestive intragenic GWAS signals suggest that RBFOX paralogs and other neurodevelopmental genes are potential UDT risk candidates, and potential TGCT susceptibility modifiers. Among differentially expressed transcripts in the fetal gubernaculum, enrichment of predicted RBFOX targets additionally suggests a role for this RBP family in regulation of testicular descent.
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