rs116919497 (ZFAT): Pediatric Glioma GWAS Variant

Key takeaways

• rs116919497, located near the ZFAT gene and MTCO1P49, is not among the genome-wide significant associations reported in the provided childhood glioma study.
• The source study is the first multi-ancestry GWAS to identify a common variant risk locus for pediatric brain tumors, spanning 4069 children with glioma and 8778 controls.
• The study's primary significant finding is at the 9p21.3 locus (CDKN2B-AS1 region), not at the MTCO1P49-ZFAT locus where this variant sits.
• No lifestyle, drug response, or tissue-specific expression data for this variant are available from the provided source.

What the research says The provided study is a meta-analysis of three population-based GWASs comprising 4069 children under 15 years of age with glioma and 8778 controls across six genetic ancestries, with replication in a separate cohort. The study identified common variants in CDKN2B-AS1 at chromosomal region 9p21.3 as the first genome-wide significant common risk locus in pediatric neuro-oncology, with the association driven specifically by low-grade astrocytoma. No specific association data for rs116919497 at the MTCO1P49-ZFAT locus are reported in the available study text.

Reported associations

• Childhood low-grade astrocytoma (study context - primary locus, not rs116919497): CDKN2B-AS1/9p21.3 variant rs573687 was significantly associated with childhood astrocytoma (p = 6.974e-10, odds ratio 1.273, 95% confidence interval 1.179-1.374), with the association driven by low-grade cases and showing unidirectional effects across all six genetic ancestries studied.
• Childhood glioma overall (study context - primary locus, not rs116919497): A separate variant, rs3731239 at the same 9p21.3 locus, approached genome-wide significance for glioma overall (p = 5.411e-8). No significant association was observed for high-grade glioma at this locus.
• No reported associations for rs116919497: The provided study text does not report specific association data for rs116919497 at the MTCO1P49-ZFAT locus.

Evidence quality The source study is a well-powered multi-ancestry meta-analysis (4069 glioma cases, 8778 controls, three cohorts, six genetic ancestries) with replication in an independent cohort, representing the largest and most diverse childhood glioma GWAS conducted at the time of publication. A transcriptome-wide association study and quantitative trait loci analyses were used to establish a functional link, specifically showing that predicted decreased brain tissue expression of CDKN2B (a tumor suppressor gene neighboring CDKN2B-AS1) was significantly associated with astrocytoma (p = 8.090e-8). Evidence quality for rs116919497 specifically cannot be assessed from the provided materials, as no association statistics for this variant are reported in the available study text.

Lifestyle considerations No lifestyle considerations on file for this variant.