rs115712293 (PAX1): Evidence Summary

Key takeaways

• No trait associations for rs115712293 are documented in the provided study sources.
• The sole provided study covers childhood glioma genetics but does not report findings for this specific variant.
• PAX1 is not discussed in the available study text; its role cannot be characterized from these sources.

What the research says The only study provided is a multi-ancestry genome-wide association study (GWAS) meta-analysis of 4,069 children with glioma (a type of brain tumor) and 8,778 controls from the United States and Scandinavia, which examined 18,628 genes via transcriptome-wide association analysis. Neither PAX1 nor rs115712293 appear in the available text of this study. The study's primary reported finding - that variants in CDKN2B-AS1 (a gene that encodes an RNA molecule antisense to the tumor suppressor CDKN2B) at chromosomal band 9p21.3 are associated with childhood astrocytoma (the most common subtype of childhood glioma) at genome-wide significance - concerns a distinct chromosomal locus with no stated connection to PAX1.

Reported associations

• No associations documented: The provided study text contains no data specific to rs115712293 or PAX1. No associations, effect sizes, or functional findings for this variant can be reported from the available source material.

Evidence quality No evidence quality assessment is possible for rs115712293 in PAX1 because none of the provided studies report on this variant directly. The sole provided study is a well-designed, population-based GWAS meta-analysis spanning six genetic ancestries with replication in an independent case-control cohort, but its reported findings - including a genome-wide significant signal at rs573687 (OR 1.273, 95% CI 1.179-1.374; P = 6.974×10^-¹^0) - address a separate genomic region entirely. Without source material that directly characterizes rs115712293, no conclusions about the strength, direction, replicability, or biological basis of any potential associations can be drawn.

Lifestyle considerations No lifestyle considerations on file for this variant.