Multi-ancestry genome-wide association study of 4069 children with glioma identifies 9p21.3 risk locus.

ABSTRACT:

Background

Although recent sequencing studies have revealed that 10% of childhood gliomas are caused by rare germline mutations, the role of common variants is undetermined and no genome-wide significant risk loci for pediatric central nervous system tumors have been identified to date.

Methods

Meta-analysis of 3 population-based genome-wide association studies comprising 4069 children with glioma and 8778 controls of multiple genetic ancestries. Replication was performed in a separate case-control cohort. Quantitative trait loci analyses and a transcriptome-wide association study were conducted to assess possible links with brain tissue expression across 18 628 genes.

Results

Common variants in CDKN2B-AS1 at 9p21.3 were significantly associated with astrocytoma, the

SUBMITTER: Foss-Skiftesvik J 

PROVIDER: S-EPMC10484172 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature