rs116906529 (SRSF5): Plasma Metabolomics Variant
Key takeaways
- rs116906529 sits near SRSF5, a gene involved in how cells process genetic instructions before building proteins.
- This variant was identified in one of the largest untargeted plasma metabolomics genetic studies conducted, covering 913 metabolites across about 20,000 people.
- The study found nearly 2,600 variant-metabolite links across 330 genomic regions, illustrating how genetics shapes each person's unique biochemical profile.
- Evidence comes from a single large study of European-ancestry populations, and generalizability to other groups has not been established.
Key takeaways
- rs116906529 is a genetic variant at or near the SRSF5 gene, identified in a large-scale genome-wide study of plasma metabolites.
- SRSF5 (Serine/Arginine-Rich Splicing Factor 5) is a gene involved in processing genetic instructions within cells.
- The study covering this variant analyzed 913 plasma metabolites across 19,994 individuals, making it one of the largest investigations of the genetics of metabolic individuality conducted at the time.
- Evidence comes from a single, large study of European-ancestry populations; generalizability to other populations has not been established by the cited research.
What the research says A genome-wide association study published in Nature Medicine (2022) investigated the genetic architecture of 913 plasma metabolites in 19,994 individuals and identified 2,599 conditionally independent variant-metabolite associations across 330 genomic regions. rs116906529 was identified in this study in connection with the SRSF5 gene region. Rare variants with minor allele frequency of 1% or less collectively explained 9.4% of all detected associations, and causal genes were assigned for 62.4% of identified genetically influenced metabotype clusters - sets of co-regulated metabolites sharing a common genetic influence.
Reported associations
- Plasma metabolite levels: rs116906529, located in the SRSF5 gene region, was identified among 2,599 variant-metabolite associations in a large untargeted plasma metabolomics genome-wide association study, linking genetic variation at this locus to circulating metabolite concentrations across nearly 20,000 individuals.
Evidence quality The association was detected using a two-stage meta-analysis across the INTERVAL and EPIC-Norfolk cohorts (n = 14,296 in discovery, n = 5,698 in validation), applying a significance threshold of P < 1.25 x 10^-11, which is substantially more stringent than the conventional genome-wide threshold. All participants were of European ancestry, limiting conclusions about broader population generalizability. The specific metabolite or metabolites associated with rs116906529, and the associated effect sizes, are not reported in the available study excerpt; full supplementary data would be needed to characterize the precise nature and magnitude of the associations. The evidence reflects a single study, and independent replication has not been reported in the materials provided.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs116906529?
rs116906529 is a genetic variant located at or near the SRSF5 gene. It was identified in a large 2022 plasma metabolomics genome-wide association study as one of nearly 2,600 genetic variants linked to circulating metabolite levels in blood.
What does the SRSF5 gene do?
SRSF5 stands for Serine/Arginine-Rich Splicing Factor 5. It encodes a protein involved in RNA splicing, which is the process by which cells edit genetic instructions before using them to build proteins.
Is rs116906529 linked to any diseases?
The available research identifies rs116906529 in the context of plasma metabolite levels rather than specific diseases. The study notes that genetic influences on metabolite levels can have broader clinical relevance, but no specific disease associations for this variant are reported in the provided evidence.
How was rs116906529 discovered?
It was identified in a two-stage genome-wide association meta-analysis of 913 plasma metabolites, using samples from approximately 20,000 individuals of European ancestry from the INTERVAL and EPIC-Norfolk cohorts, applying a stringent significance threshold of P < 1.25 x 10^-11.
What is a plasma metabolomics GWAS?
A plasma metabolomics genome-wide association study scans thousands of genetic variants to find which ones are statistically linked to levels of specific metabolites - the small molecules that circulate in blood as products of the body's biochemical processes.