Genome-wide association study across pediatric central nervous system tumors implicates shared predisposition and points to 1q25.2 (PAPPA2) and 11p12 (LRRC4C) as novel candidate susceptibility loci.
Brain tumor
Childhood
Common variants
GWAS
Germline
Single nucleotide polymorphism
Journal
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
ISSN: 1433-0350
Titre abrégé: Childs Nerv Syst
Pays: Germany
ID NLM: 8503227
Informations de publication
Date de publication:
03 2021
03 2021
Historique:
received:
13
08
2020
accepted:
26
10
2020
pubmed:
24
11
2020
medline:
29
6
2021
entrez:
23
11
2020
Statut:
ppublish
Résumé
Central nervous system (CNS) tumors constitute the most common form of solid neoplasms in children, but knowledge on genetic predisposition is sparse. In particular, whether susceptibility attributable to common variants is shared across CNS tumor types in children has not been investigated. The purpose of this study was to explore potential common genetic risk variants exhibiting pleiotropic effects across pediatric CNS tumors. We also investigated whether such susceptibility differs between early and late onset of disease. A Danish nationwide genome-wide association study (GWAS) of 1,097 consecutive patients (< 15 years of age) with CNS tumors and a cohort of 4,745 population-based controls. For both the overall cohort and patients diagnosed after the age of four, the strongest association was rs12064625 which maps to PAPPA2 at 1q25.2 (p = 3.400 × 10 This GWAS indicates shared susceptibility attributable to common variants across pediatric CNS tumor types. Variations in genetic loci with roles in CNS development appear to be involved, possibly via altered IGF-I related pathways.
Identifiants
pubmed: 33226468
doi: 10.1007/s00381-020-04946-3
pii: 10.1007/s00381-020-04946-3
doi:
Substances chimiques
PAPPA2 protein, human
EC 3.4.-
Pregnancy-Associated Plasma Protein-A
EC 3.4.24.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
819-830Références
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