Multi-ancestry genome-wide association study of 4,069 children with glioma identifies 9p21.3 risk locus.
Jon Foss-SkiftesvikShaobo LiAdam RosenbaumChristian Munch HagenUlrik Kristoffer StoltzeSally LjungqvistUlf HjalmarsKjeld SchmiegelowLibby M MorimotoAdam J de SmithRené MathiasenCatherine MetayerDavid HougaardBeatrice MelinKyle M WalshJonas Bybjerg-GrauholmAnna M DahlinJoseph L WiemelsPublished in: Neuro-oncology (2023)
In this population-based GWAS meta-analysis, we identify and replicate 9p21.3 (CDKN2B-AS1) as a risk locus for childhood astrocytoma, thereby establishing the first genome-wide significant evidence of common variant predisposition in pediatric neuro-oncology. We furthermore provide a functional basis for the association by showing a possible link to decreased brain tissue CDKN2B expression and substantiate that genetic susceptibility differs between low- and high-grade astrocytoma.