Expressive

rs117574829 (RNU6-1213P): No Known Associations

Key takeaways

  • rs117574829 is located in a genomic region annotated to RNU6-1213P, a U6 small nuclear RNA pseudogene, and a Y_RNA locus
  • No genome-wide significant associations have been reported for this variant in the available study literature
  • The sole available study screened serum metabolite profiles in 230 septic shock patients but did not identify this variant among its significant findings
  • Current evidence is insufficient to assign this variant a known functional or clinical role

Key takeaways

  • rs117574829 is located in a genomic region annotated to RNU6-1213P, a U6 small nuclear RNA pseudogene, and a Y_RNA locus
  • No genome-wide significant associations have been reported for this variant in the available study literature
  • The sole available study screened serum metabolite profiles in 230 septic shock patients but did not identify this variant among its significant findings
  • Current evidence is insufficient to assign this variant a known functional or clinical role

What the research says The only study available for this entry examined genetic associations with serum metabolite concentrations in 230 critically ill adults with septic shock recruited from 27 hospital sites across Australia, New Zealand, and the United Kingdom. That study identified genome-wide significant associations (p ≤ 5 × 10^-8) for three metabolites - the ketone bodies 3-hydroxybutyrate and acetoacetate, and creatinine - but rs117574829 was not reported among the significant or otherwise notable findings. The authors acknowledged that their results require further investigation and replication across both healthy and diseased cohorts of diverse ancestry.

Reported associations

  • No associations reported: rs117574829 was not identified as an associated variant in the available genome-wide association study of serum metabolite levels in septic shock patients

Evidence quality The available study was a GWAS conducted in a small clinical cohort (n = 230) drawn from the ADRENAL randomized controlled trial (ClinicalTrials.gov NCT01448109), which substantially limits statistical power to detect associations with moderate or small effect sizes. Enrollment was restricted to individuals with septic shock, and the authors explicitly cautioned that findings may not generalize to healthy populations or to individuals of different ancestry. No associations involving rs117574829 were reported at any significance threshold, and no replication data exist in the provided literature. The evidence base for this variant should therefore be considered absent rather than preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs117574829?

rs117574829 is a single-nucleotide polymorphism - a position in the genome where individuals can differ by one DNA letter - located near a region annotated to RNU6-1213P, a pseudogene, and a Y_RNA locus. No trait associations have been established for it in the available research.

What is RNU6-1213P?

RNU6-1213P is annotated as a pseudogene - a genomic sequence that resembles a functional gene but whose biological role is not established in the available literature. The variant rs117574829 sits near this region alongside a Y_RNA locus.

Has rs117574829 been linked to any disease or health condition?

Based on the available study literature, no. A genome-wide association study of serum metabolite levels in critically ill septic shock patients did not identify this variant among its significant findings, and no other studies are on file.

What is a genome-wide association study (GWAS)?

A genome-wide association study scans large numbers of genetic variants across the entire genome to find those statistically linked to a particular trait or disease. The available GWAS of metabolites in septic shock patients did not find a significant association with rs117574829.