20.500.12556/RUL-178014 In silico analysis reveals distinct changes in markers of epithelial to mesenchymal transition in glioma subtypes Epithelial to mesenchymal transition (EMT) plays a critical role in tumor progression and metastasis, including in gliomas. To examine and interpret data on major genes involved in EMT and associate their changes with low-grade (LGG) and/or high-grade (HGG) gliomas, data from the cBioPortal-a publicly available database for tumor genomics and transcriptomics, were collected for 13 genes: CDH1, CDH2, CTNNB1, LEF1, NOTCH1, SNAI1, SNAI2, SOX2, TJP1/ZO1, TWIST1, VIM, ZEB1, and ZEB2. The dataset included mutations, copy number alterations (CNA), and changes in transcript levels reported for each gene. The genes were additionally validated by gene expression on the GlioVis portal, STRING protein network analysis, survival analysis, and experimentally with qRT-PCR. Glioblastoma and diffuse glioma harbored changes in all 13 analyzed genes, while anaplastic oligodendroglioma and anaplastic astrocytoma in 46.15%, oligodendroglioma in 23.08%, and oligoastrocytoma in 15.38%. NOTCH1 and SOX2 were most affected by changes. The NOTCH1 gene was statistically more frequently changed compared to CDH1, CTNNB1, and ZEB1 (p < 0.05). The virtual study showed that alterations in NOTCH1 and LEF1 were associated with LGG, while alterations in CDH1, CTNNB1, TJP1, TWIST1, SOX2, VIM, ZEB1, and ZEB2 were associated with HGG. Differential expression analysis stratified for IDH1 mutations showed that IDH1-mutant glioblastoma had significantly lower CDH2, LEF1 and SNAI1 expression, and higher ZEB1. Gene expression in different glioblastoma subtypes showed that the TJP1/ZO1 gene was associated with the classical subtype, while ZEB2 was associated with the proneural subtype. qRT-PCR confirmed GlioVis mRNA expression data for NOTCH1, SOX2, CDH1, CTNNB1, TJP1/ZO-1, VIM, TWIST1, and partially for SNAI1 (SNAIL), SNAI2, and CDH2. Our study shows consistent changes in genes involved in EMT in gliomas of different grades. Additional research is needed to confirm the knowledge brought by this study. glioma EMT marker MOTCH1 SOX2 progression WHO grade cBioPortal GlioVis qRT-PCR gliom EMT marker MOTCH1 SOX2 progresija lestvica SZO cBioPortal GlioVis qRT-PCR true false true Angleški jezik Slovenski jezik Članek v reviji 2026-01-16 08:32:17 2026-01-16 08:32:23 2026-01-30 09:04:16 0000-00-00 00:00:00 2025 0 0 54 str. iss. 12 Vol. 25 2025 0000-00-00 Zaloznikova Objavljeno NiDoloceno 0000-00-00 0000-00-00 2025-01-01 577.2 2831-0896 10.17305/bb.2025.12598 244939011 RAZ_Pecina-Slaus_Nives_2025.pdf RAZ_Pecina-Slaus_Nives_2025.pdf 1 981D56B44EA7B78BEDE51AF954592867 246ea43b7fba9c67e946dc43ec49f8438cae57d424e4127a40389432c1de36a1 c64ceb79-f2b0-11f0-bf92-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=225503 https://www.bjbms.org/ojs/index.php/bjbms/article/view/12598 1 77583f9e-f2ad-11f0-bf92-0050569b8976 https://repozitorij.uni-lj.si/Dokument.php?lang=slv&id=225501 Medicinska fakulteta 0 0 0