rs10203991 (LINC01830): Athlete Metabolomics Variant

Key takeaways

• A metabolic GWAS in 490 elite athletes identified rs10203991, near LINC01830, as a candidate variant influencing serum metabolite levels.
• LINC01830 is a long intergenic non-coding RNA gene - it produces RNA but not proteins, and its biological function has not been fully characterized.
• This study was among the first to conduct a metabolomics GWAS specifically in elite, world-class athletes, screening 275,016 genetic variants against 751 serum metabolites.
• Evidence is preliminary - based on a single relatively small study with no published independent replication described in the available text.

What the research says A metabolic genome-wide association study (mGWAS) in 490 elite athletes from multiple sport disciplines screened 275,016 genetic variants against 751 serum metabolites, aiming to identify metabolic quantitative trait loci (mQTLs) - genetic variants that influence the circulating level of specific metabolites in the blood - unique to the elite athlete context. The study design explicitly compared mQTLs found in elite athletes with those previously identified in non-elite populations, reasoning that extreme training and dietary environments might reveal novel genetically-driven metabolic patterns. The available study text was truncated before the full results for rs10203991 near LINC01830 were described, so the specific associated metabolite, effect size, and p-value for this variant could not be confirmed from the provided source material.

Reported associations

• Serum metabolomics in elite athletes: rs10203991, located near LINC01830 (a long intergenic non-coding RNA locus), was identified as a candidate mQTL in a genome-wide screen of 490 elite athletes; the specific metabolite it is associated with was not described in the portion of study text available.

Evidence quality The source study comprises 490 elite athletes with 751 serum metabolites profiled across 275,016 genotyped SNPs - a relatively small sample by current GWAS standards, which limits statistical power and increases the likelihood that individual associations may not replicate in larger or independent cohorts. The study appeared in Scientific Reports in 2020 and was the first reported mGWAS conducted in an elite athlete population. No PMID was supplied in the study metadata provided. The full study text was truncated before the specific result for rs10203991 was described, meaning the associated metabolite, statistical confidence level, and effect size for this variant remain unconfirmed from the available source material. Independent replication of this finding has not been described in the available text. All evidence for this variant should be treated as preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.