TITOLO: The Non-Coding Regulatory Variant rs2863002 at chr11p11.2 Increases Neuroblastoma Risk by Affecting - HSD17B12 Expression and Lipid Metabolism.

DIDASCALIA: The SNP rs2863002 at the 11p11.2 locus, identified through GWAS, is associated with an increased risk of neuroblastoma. The rs2863002-C allele impairs the binding of the transcription factor GATA3, resulting in upregulation of the HSD17B12 gene. Overexpression of HSD17B12 promotes a pro-tumorigenic phenotype in neuroblastoma cells and leads to alterations in lipid metabolism.

LINK: https://advanced.onlinelibrary.wiley.com/doi/full/10.1002/advs.202415181