rs1009647 - ATG14 - RPL21P6

Magnitude 2.2 · 1 study on file

Reported associations

• Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor - Unknown journal (n.d.) · Unknown authors · PubMed 28604728

  ABSTRACT: Genome-wide association studies (GWAS) have transformed our understanding of testicular germ cell tumour (TGCT) susceptibility but much of the heritability remains unexplained. Here we report a new GWAS, a meta-analysis with previous GWAS and a replication series, totalling 7,319 TGCT cases and 23,082 controls. We identify 19 new TGCT risk loci, approximately doubling the number of known TGCT risk loci to 44. By performing in-situ Hi-C in TGCT cells, we provide evidence for a network of physical interactions between all 44 TGCT risk SNPs and candidate causal genes. Our findings reveal widespread disruption of developmental transcriptional regulators as a basis of TGCT susceptibility, consistent with failed primordial germ cell differentiation as an initiating step in oncogenesis.

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