rs113336870 (EPHA10): Childhood Glioma Variant

Key takeaways

• rs113336870 is a variant in the EPHA10 gene that was evaluated in a multi-ancestry genome-wide association study of childhood glioma.
• The study combined data from 4069 children with glioma and 8778 controls across six genetic ancestries.
• Specific statistical results for rs113336870 are not detailed in the available study text, so evidence for this variant remains preliminary.
• The study established the first genome-wide significant common-variant risk locus for pediatric brain tumors at 9p21.3 (CDKN2B-AS1, a region containing the tumor suppressor gene CDKN2B), a distinct genomic location from EPHA10.
• Low-grade and high-grade childhood astrocytoma showed different patterns of genetic susceptibility in this analysis.

What the research says rs113336870, located in the EPHA10 gene, was included in a genome-wide scan conducted as a meta-analysis of 3 population-based case-control studies involving 4069 children diagnosed with glioma (a type of brain tumor) before age 15 and 8778 cancer-free controls drawn from six genetic ancestries. The study applied quantitative trait loci analyses (statistical tests that link genetic variants to changes in gene activity levels) and a transcriptome-wide association study (a method that connects variant effects to gene expression patterns across tissues) to probe connections between common variants and brain tissue expression across 18,628 genes. No specific odds ratio, confidence interval, or p-value for rs113336870 appears in the available study text.

Reported associations

• Childhood glioma: rs113336870 was evaluated in the context of pediatric glioma susceptibility within a multi-ancestry genome-wide association study; specific effect size data for this variant are not present in the available study text.

Evidence quality The parent study is among the largest pediatric glioma genetics analyses published to date, with 4069 cases and 8778 controls spanning six genetic ancestries including European-American, African-American, and Latino-American populations, and with replication in a separate cohort for its primary finding. The study's confirmed genome-wide significant signal was at 9p21.3 (rs573687, OR 1.273, 95% CI 1.179-1.374, P=6.974e-10) for the astrocytoma subtype, while a separate variant (rs3731239) approached genome-wide significance for glioma overall (P=5.411e-8); the 9p21.3 signal was driven by low-grade astrocytoma (P=3.815e-9) with no significant association for high-grade tumors. Predicted decreased brain tissue expression of the tumor suppressor gene CDKN2B was significantly associated with astrocytoma (P=8.090e-8), providing a functional basis for the 9p21.3 finding. Specific association statistics, confidence intervals, or replication results for rs113336870 in the EPHA10 gene are absent from the available study text, and evidence for this variant specifically must be considered preliminary pending full reporting.

Lifestyle considerations No lifestyle considerations on file for this variant.