1 Ocak 2016 Dergi makalesi Açık Erişim

Oktay, Yavuz; Ulgen, Ege; Can, Ozge; Akyerli, Cemaliye B.; Yuksel, Sirin; Erdemgil, Yigit; Durasi, I. Melis; Henegariu, Octavian Ioan; Nanni, E. Paolo; Selevsek, Nathalie; Grossmann, Jonas; Erson-Omay, E. Zeynep; Bai, Hanwen; Gupta, Manu; Lee, William; Turcan, Sevin; Ozpinar, Aysel; Huse, Jason T.; Sav, M. Aydin; Flanagan, Adrienne; Flanagan, Adrienne

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{
  "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.", 
  "author": [
    {
      "family": "Oktay", 
      "given": " Yavuz"
    }, 
    {
      "family": "Ulgen", 
      "given": " Ege"
    }, 
    {
      "family": "Can", 
      "given": " Ozge"
    }, 
    {
      "family": "Akyerli", 
      "given": " Cemaliye B."
    }, 
    {
      "family": "Yuksel", 
      "given": " Sirin"
    }, 
    {
      "family": "Erdemgil", 
      "given": " Yigit"
    }, 
    {
      "family": "Durasi", 
      "given": " I. Melis"
    }, 
    {
      "family": "Henegariu", 
      "given": " Octavian Ioan"
    }, 
    {
      "family": "Nanni", 
      "given": " E. Paolo"
    }, 
    {
      "family": "Selevsek", 
      "given": " Nathalie"
    }, 
    {
      "family": "Grossmann", 
      "given": " Jonas"
    }, 
    {
      "family": "Erson-Omay", 
      "given": " E. Zeynep"
    }, 
    {
      "family": "Bai", 
      "given": " Hanwen"
    }, 
    {
      "family": "Gupta", 
      "given": " Manu"
    }, 
    {
      "family": "Lee", 
      "given": " William"
    }, 
    {
      "family": "Turcan", 
      "given": " Sevin"
    }, 
    {
      "family": "Ozpinar", 
      "given": " Aysel"
    }, 
    {
      "family": "Huse", 
      "given": " Jason T."
    }, 
    {
      "family": "Sav", 
      "given": " M. Aydin"
    }, 
    {
      "family": "Flanagan", 
      "given": " Adrienne"
    }, 
    {
      "family": "Flanagan", 
      "given": " Adrienne"
    }
  ], 
  "container_title": "SCIENTIFIC REPORTS", 
  "id": "59661", 
  "issued": {
    "date-parts": [
      [
        2016, 
        1, 
        1
      ]
    ]
  }, 
  "title": "IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation", 
  "type": "article-journal", 
  "volume": "6"
}