Expressive

rs116391452 (SPCS3-HAFML): Sepsis Metabolomics GWAS

Key takeaways

  • This variant was not among the significant findings in a metabolite GWAS of 230 critically ill septic shock patients.
  • The study tested genome-wide genetic links to metabolite levels in septic shock, a severe infection-driven condition affecting organs and circulation.
  • Only three variants reached the genome-wide significance threshold of p <= 5 x 10-8 in the study - for ketone bodies and creatinine - not this one.
  • No effect size or trait association for rs116391452 is available from the provided research.

Key takeaways

  • This variant was not reported as a genome-wide significant finding in the provided study of serum metabolite profiles in critically ill patients with septic shock.
  • The provided study identified significant loci for ketone bodies and creatinine in 230 septic shock patients, but rs116391452 was not among them.
  • No effect sizes, odds ratios, or trait associations for this variant can be derived from the provided research.
  • No lifestyle considerations are on file for this variant based on the provided study.

What the research says The only study provided for this entry examined genetic associations with serum metabolite levels in 230 adult, mechanically ventilated septic shock patients recruited across 27 hospital sites in Australia, New Zealand, and the United Kingdom as part of the ADRENAL (Adjunctive Corticosteroid Treatment in Critically Ill Patients with Septic Shock) trial. That study applied a genome-wide significance threshold of p <= 5 x 10-8 and identified three variants linked to ketone body levels (3-hydroxybutyrate and acetoacetate) and creatinine, but rs116391452 was not among the reported findings.

Reported associations

  • No reported associations: rs116391452 did not reach genome-wide significance (p <= 5 x 10-8) in the provided serum metabolite genome-wide association study (GWAS) conducted in critically ill septic shock patients.

Evidence quality The provided study enrolled 230 participants, a relatively small sample for a GWAS. The study focused exclusively on patients in septic shock, a severe form of infection-driven organ and circulatory failure, and reported only three genome-wide significant loci across all tested metabolites; rs116391452 was not among them. No p-value, effect size, or independent replication data for this variant can be derived from the provided source. The study authors noted that all findings require further investigation and replication in both healthy and diseased cohorts, including those of different ancestry.

Lifestyle considerations No lifestyle considerations on file for this variant.

Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Bloodwork

  • kidney function with serum creatinine and eGFR Moderate

    rs116391452 G-allele associates with elevated creatinine; monitoring kidney function helps track baseline and detect changes.

    baseline serum creatinine and eGFR; repeat annually

Frequently asked questions

What is rs116391452?

rs116391452 is a single-nucleotide polymorphism (a position in the genome where individuals may differ by a single DNA letter) annotated to the SPCS3-HAFML gene region. The provided study did not report a significant association for this variant.

Is rs116391452 linked to septic shock or metabolite levels?

Based on the provided study - a genome-wide association study of serum metabolites in 230 septic shock patients - rs116391452 was not identified as a significant finding. No association is reportable from the provided source.

What genes are near rs116391452?

rs116391452 is annotated to the SPCS3-HAFML gene region. The provided study does not describe these genes or their roles in relation to this specific variant.

Was rs116391452 tested in the septic shock metabolomics study?

The provided GWAS covered the full genome in 230 septic shock patients but did not report rs116391452 as reaching the genome-wide significance threshold of p <= 5 x 10-8.