IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation

Sci Rep. 2016 Jun 10:6:27569. doi: 10.1038/srep27569.

Abstract

The single nucleotide polymorphism rs55705857, located in a non-coding but evolutionarily conserved region at 8q24.21, is strongly associated with IDH-mutant glioma development and was suggested to be a causal variant. However, the molecular mechanism underlying this association has remained unknown. With a case control study in 285 gliomas, 316 healthy controls, 380 systemic cancers, 31 other CNS-tumors, and 120 IDH-mutant cartilaginous tumors, we identified that the association was specific to IDH-mutant gliomas. Odds-ratios were 9.25 (5.17-16.52; 95% CI) for IDH-mutated gliomas and 12.85 (5.94-27.83; 95% CI) for IDH-mutated, 1p/19q co-deleted gliomas. Decreasing strength with increasing anaplasia implied a modulatory effect. No somatic mutations were noted at this locus in 114 blood-tumor pairs, nor was there a copy number difference between risk-allele and only-ancestral allele carriers. CCDC26 RNA-expression was rare and not different between the two groups. There were only minor subtype-specific differences in common glioma driver genes. RNA sequencing and LC-MS/MS comparisons pointed to significantly altered MYC-signaling. Baseline enhancer activity of the conserved region specifically on the MYC promoter and its further positive modulation by the SNP risk-allele was shown in vitro. Our findings implicate MYC deregulation as the underlying cause of the observed association.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Alleles
  • Biomarkers, Tumor / genetics*
  • Female
  • Gene Expression Regulation, Neoplastic
  • Genetic Association Studies*
  • Genetic Predisposition to Disease
  • Glioma / genetics*
  • Glioma / pathology
  • Humans
  • Isocitrate Dehydrogenase / genetics
  • Kaplan-Meier Estimate
  • Male
  • Middle Aged
  • Mutation
  • Neoplasm Grading
  • Neoplasm Proteins / genetics
  • Polymorphism, Single Nucleotide
  • Proteomics
  • Proto-Oncogene Proteins c-myc / genetics*
  • Sequence Analysis, RNA

Substances

  • Biomarkers, Tumor
  • MYC protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Proteins c-myc
  • Isocitrate Dehydrogenase