Genomic profiling of the Vitamin D pathway in glioblastoma: Impact of CYP27B1 variants on patient outcomes

ABSTRACT: This experiment aims to characterize the genomic landscape of the Vitamin D metabolic pathway in IDH-wildtype glioblastoma (GBM) to evaluate its prognostic significance. While circulating Vitamin D levels are known to influence GBM progression, this study specifically investigates how genetic variation within key metabolic genes—including VDR, CYP27B1, CYP2R1, CYP27A1, CYP24A1, and GC—correlates with patient outcomes. The primary intent is to distinguish the mutational profiles of tumors stratified by their metabolic competence. Samples were categorized into a \"Wild-Type\" (WT) group if they carried homozygous wild-type alleles across four critical CYP27B1 loci (rs4646536, rs10877012, rs118204009, and rs703842), and a \"SNP\" group if at least one variant allele was present at any of thes

INSTRUMENT(S): NextSeq 550

ORGANISM(S): Homo sapiens

SUBMITTER: Francesca Marchetto 

PROVIDER: E-MTAB-16927 | biostudies-arrayexpress |

REPOSITORIES: biostudies-arrayexpress