Expressive

rs117336193 (SLC22A31): Genetic Evidence Review

Key takeaways

  • rs117336193 is a variant at the SLC22A31 locus with no reported trait associations in the available sources.
  • The source study is a genome-wide analysis of childhood glioma in 4,069 children spanning multiple ancestries.
  • Significant findings in that study centered on the 9p21.3 region, not this locus.
  • Lack of reported associations reflects current data limits, not a definitive negative finding.

Key takeaways

  • rs117336193 is a genetic variant at the SLC22A31 locus, but no specific associations for this variant appear in the provided source study.
  • The available source is a multi-ancestry genome-wide association study (GWAS) of 4,069 children with glioma and 8,778 controls across multiple genetic ancestries.
  • The source study's genome-wide significant findings center on a different chromosomal region (9p21.3) and do not include this locus.
  • Absence of reported findings here reflects the scope of the available data, not a confirmed null result.

What the research says The sole available source is a population-based GWAS meta-analysis of childhood glioma across three cohorts, covering multiple genetic ancestries, with replication in a separate case-control dataset. Its primary reported finding was that common variants at 9p21.3 (CDKN2B-AS1) are genome-wide significantly associated with childhood astrocytoma, the most common glioma subtype in children (rs573687, OR 1.273, 95% CI 1.179-1.374, P = 6.974×10^-¹^0), driven largely by low-grade astrocytoma (P = 3.815×10^-9). Neither rs117336193 nor the SLC22A31 locus are among the associations reported in this study.

Reported associations

  • No associations on record: The provided source study does not report any association between rs117336193 and any trait or disease phenotype. The study's genome-wide significant finding pertains to a different variant and gene region entirely.

Evidence quality No study-level evidence directly addressing rs117336193 was identified in the provided sources. The available study (Foss-Skiftesvik et al., Neuro-oncology, 2023) is a well-powered meta-analysis of three population-based GWAS cohorts - 4,069 pediatric glioma cases and 8,778 controls - that achieved genome-wide significance (P < 5×10^-8) for a single locus, 9p21.3, in childhood astrocytoma, with unidirectional effects across all six genetic ancestries. Without access to the full summary statistics for all tested variants in this study, it is not possible to assess whether rs117336193 was analyzed or whether it showed any statistical signal below the genome-wide significance threshold. No conflicting findings arise because no findings for this variant exist in the provided data.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117336193?

rs117336193 is a genetic variant at the SLC22A31 locus. No specific disease or trait associations for this variant were identified in the available research sources.

Is rs117336193 linked to glioma or childhood cancer?

The available source study analyzed common genetic variants across the genome in children with glioma but did not report an association with rs117336193. Its significant findings involved a different genomic region.

What is the SLC22A31 gene?

SLC22A31 is the gene at the locus containing rs117336193. The available research sources do not report findings specific to this gene or variant.

How strong is the evidence for this variant?

No direct study-level evidence for rs117336193 was found in the available sources. Absence of evidence here reflects the limited scope of the available data rather than a confirmed negative result.