RGD Reference Report - CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility. - Rat Genome Database

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CCDC26, CDKN2BAS, RTEL1 and TERT Polymorphisms in pediatric brain tumor susceptibility.

Authors: Adel Fahmideh, Maral  Lavebratt, Catharina  Schüz, Joachim  Röösli, Martin  Tynes, Tore  Grotzer, Michael A  Johansen, Christoffer  Kuehni, Claudia E  Lannering, Birgitta  Prochazka, Michaela  Schmidt, Lisbeth S  Feychting, Maria 
Citation: Adel Fahmideh M, etal., Carcinogenesis. 2015 Aug;36(8):876-82. doi: 10.1093/carcin/bgv074. Epub 2015 May 25.
RGD ID: 152985535
Pubmed: PMID:26014354   (View Abstract at PubMed)
DOI: DOI:10.1093/carcin/bgv074   (Journal Full-text)

The role of genetic polymorphisms in pediatric brain tumor (PBT) etiology is poorly understood. We hypothesized that single nucleotide polymorphisms (SNPs) identified in genome-wide association studies (GWAS) on adult glioma would also be associated with PBT risk. The study is based on the Cefalo study, a population-based multicenter case-control study. Saliva DNA from 245 cases and 489 controls, aged 7-19 years at diagnosis/reference date, was extracted and genotyped for 29 SNPs reported by GWAS to be significantly associated with risk of adult glioma. Data were analyzed using unconditional logistic regression. Stratified analyses were performed for two histological subtypes: astrocytoma alone and the other tumor types combined. The results indicated that four SNPs, CDKN2BAS rs4977756 (p = 0.036), rs1412829 (p = 0.037), rs2157719 (p = 0.018) and rs1063192 (p = 0.021), were associated with an increased susceptibility to PBTs, whereas the TERT rs2736100 was associated with a decreased risk (p = 0.018). Moreover, the stratified analyses showed a decreased risk of astrocytoma associated with RTEL1 rs6089953, rs6010620 and rs2297440 (p trend = 0.022, p trend = 0.042, p trend = 0.029, respectively) as well as an increased risk of this subtype associated with RTEL1 rs4809324 (p trend = 0.033). In addition, SNPs rs10464870 and rs891835 in CCDC26 were associated with an increased risk of non-astrocytoma tumor subtypes (p trend = 0.009, p trend = 0.007, respectively). Our findings indicate that SNPs in CDKN2BAS, TERT, RTEL1 and CCDC26 may be associated with the risk of PBTs. Therefore, we suggest that pediatric and adult brain tumors might share common genetic risk factors and similar etiological pathways.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
brain cancer susceptibilityIAGP 152985535DNA:SNP:cds:rs10464870 more ...RGD 
brain cancer susceptibilityIAGP 152985535DNA:SNPs:cds:rs4977756 more ...RGD 
brain cancer amelioratesIAGP 152985535DNA:SNP:cds:rs2736100 (human)RGD 
brain cancer amelioratesISOTERT (Homo sapiens)152985535; 152985535DNA:SNP:cds:rs2736100 (human)RGD 
childhood astrocytic tumor amelioratesIAGP 152985535DNA:SNP:cds:rs6089953 more ...RGD 
childhood astrocytic tumor susceptibilityIAGP 152985535DNA:SNP:cds:rs4809324 (human)RGD 
childhood astrocytic tumor amelioratesISORTEL1 (Homo sapiens)152985535; 152985535DNA:SNP:cds:rs6089953 more ...RGD 
childhood astrocytic tumor susceptibilityISORTEL1 (Homo sapiens)152985535; 152985535DNA:SNP:cds:rs4809324 (human)RGD 

Objects Annotated

Genes (Rattus norvegicus)
Rtel1  (regulator of telomere elongation helicase 1)
Tert  (telomerase reverse transcriptase)

Genes (Mus musculus)
Rtel1  (regulator of telomere elongation helicase 1)
Tert  (telomerase reverse transcriptase)

Genes (Homo sapiens)
CCDC26  (CCDC26 long non-coding RNA)
CDKN2B-AS1  (CDKN2B antisense RNA 1)
RTEL1  (regulator of telomere elongation helicase 1)
TERT  (telomerase reverse transcriptase)


Additional Information