rs117605738 (HIP1): Evidence from Glioma GWAS
Key takeaways
- rs117605738 in HIP1 was not among the significant findings in the provided large-scale pediatric glioma genome-wide association study.
- The major discovery in that study was at a separate chromosomal region (9p21.3) involving a different gene, CDKN2B-AS1.
- No effect sizes or confirmed associations for rs117605738 are available from the provided source material.
- Evidence for this variant's role in any condition remains unestablished based on the provided material.
Key takeaways
- rs117605738 in HIP1 was not among the significant findings in the provided large-scale pediatric glioma genome-wide association study.
- The major discovery in that study was at a separate chromosomal region (9p21.3) involving a different gene, CDKN2B-AS1.
- No effect sizes or confirmed associations for rs117605738 are available from the provided source material.
- Evidence for this variant's role in any condition remains unestablished based on the provided material.
What the research says The sole source study is a population-based meta-analysis of three genome-wide association studies (GWAS) examining childhood glioma - the most common type of pediatric central nervous system tumor - across multiple genetic ancestries, comprising 4,069 cases (children under age 15) and 8,778 controls. The study identified common variants in CDKN2B-AS1 (an antisense RNA gene flanking the CDKN2B tumor suppressor) at the 9p21.3 chromosomal region as the first genome-wide significant common variant risk locus in pediatric neuro-oncology, with the lead variant rs573687 showing an odds ratio of 1.273 (95% CI 1.179-1.374, p = 6.974×10^-¹^0), driven by low-grade astrocytoma. The HIP1 gene and rs117605738 are not named or discussed anywhere in the provided text of this study.
Reported associations
- Childhood astrocytoma (low-grade): No association with rs117605738 or HIP1 is reported in the provided study. The genome-wide significant finding in this analysis involves rs573687 at a separate chromosomal locus (9p21.3 / CDKN2B-AS1 region), not HIP1.
Evidence quality The provided study is a peer-reviewed, replicated, multi-ancestry GWAS meta-analysis - a methodologically rigorous design for identifying common genetic risk variants. Its 4,069 pediatric glioma cases were assembled through international collaboration across US and Scandinavian population-based registries spanning six genetic ancestries, and the primary finding was replicated in a separate case-control cohort. The association at 9p21.3 was unidirectional across all six ancestries, strengthening confidence in that specific result. However, the provided text contains no data on rs117605738 or HIP1 whatsoever, so no evidence quality assessment for this specific variant is possible from the available material. If rs117605738 was tested in this GWAS, it did not appear among the reported significant or near-significant loci.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs117605738?
rs117605738 is a single nucleotide polymorphism - a one-letter variation in DNA - located in the HIP1 gene region. The provided source study, a large pediatric brain tumor genetics study, does not report a specific association for this variant.
Is rs117605738 linked to glioma or brain tumors?
The only provided source is a genome-wide association study of childhood glioma in 4,069 cases and 8,778 controls. That study does not report rs117605738 or HIP1 among its significant findings.
What is the HIP1 gene?
HIP1 is the gene associated with rs117605738 in this entry. The provided glioma genome-wide association study does not describe HIP1 among its reported significant genetic associations.
What did the provided pediatric glioma study find?
The study found that common variants near the CDKN2B-AS1 gene at chromosomal region 9p21.3 were significantly associated with childhood astrocytoma, with an odds ratio of approximately 1.27 (p = 6.974×10^-¹^0). The authors described this as the first genome-wide significant common variant finding in pediatric brain tumor genetics.
Why is there so little information about rs117605738?
Pediatric brain tumors are rare, making large genetic studies difficult to conduct. The provided source study is the largest of its kind to date, and it focused on identifying the strongest risk signals across the genome - variants that did not reach genome-wide significance thresholds are not individually reported.