Expressive

rs11148428 (LINC00374): Athletic Metabolomics Variant

Key takeaways

  • rs11148428 is located in LINC00374, a long intergenic non-coding RNA gene with no well-characterized protein-coding function
  • This variant was identified in a metabolic genome-wide study of 490 elite athletes profiling 751 serum metabolites
  • The alternate allele is linked to increased LINC00374 expression specifically in testis tissue, per GTEx v11 data
  • Evidence is preliminary, from a single small-sample study with no published independent replication
  • No specific metabolite or health outcome has been firmly established for this variant in available research

Key takeaways

  • rs11148428 sits within LINC00374, a long intergenic non-coding RNA gene with no well-characterized protein-coding function
  • This variant was identified through a metabolic genome-wide association study (mGWAS) of 490 elite athletes
  • GTEx v11 data link the alternate allele to increased LINC00374 expression specifically in testis tissue (slope +0.37, p=3.8e-8)
  • Evidence is preliminary, drawn from a single small study without an independent replication cohort
  • No lifestyle-specific findings have been established for this variant in available research

What the research says A metabolic genome-wide association study profiling 751 serum metabolites in 490 elite athletes, using 275,016 quality-controlled genetic variants, aimed to discover metabolic quantitative trait loci (mQTLs) - genetic variants that predict measurable differences in blood metabolite levels - and to compare them against mQTLs previously observed in non-athlete populations. Separately, GTEx v11 expression data (953 donors, cis-window analysis, FDR<0.05) show that the alternate allele at rs11148428 is linked to increased expression of this gene in testis tissue GTEx Portal.

Reported associations

  • Metabolic quantitative trait locus in elite athletes: rs11148428 was surfaced in an mGWAS of 490 elite athletes examining 751 serum metabolites; the specific metabolite linked to this locus is not detailed in the available study text
  • Testis-specific gene expression (eQTL): GTEx v11 data show the alternate allele is associated with increased expression of the gene in testis tissue (slope +0.37, p=3.8e-8) GTEx Portal

Evidence quality The mGWAS contributing to this variant's identification enrolled 490 elite athletes - a modest sample for GWAS standards, where well-powered studies typically include tens of thousands of participants. No independent replication cohort is described for this specific locus in the available study text, and the study's authors note that genetic research in elite athletes has historically been hindered by small sample sizes and phenotypic complexity. The GTEx eQTL evidence rests on a larger and methodologically distinct dataset (953 donors, p=3.8e-8), but eQTL effects describe gene regulation rather than health or performance outcomes directly. Taken together, evidence linking rs11148428 to any specific phenotype or metabolite should be considered preliminary and exploratory.

Tissue-specific expression effects

  • LINC00374: the alternate allele is linked to increased expression in testis tissue; no other tissues reached significance in GTEx v11 data GTEx Portal

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is LINC00374?

LINC00374 is a long intergenic non-coding RNA gene. It produces RNA but does not encode a protein, and its specific biological role has not been well characterized in the available research.

What trait is rs11148428 associated with?

rs11148428 was identified in a metabolic genome-wide association study of 490 elite athletes that examined how genetic variants influence blood metabolite levels. GTEx expression data also link the alternate allele to increased LINC00374 expression specifically in testis tissue.

Is rs11148428 linked to athletic performance?

This variant surfaced in a metabolic GWAS of elite athletes, but the study's sample size is relatively small and no replication study has confirmed a direct link to athletic performance. The association should be considered exploratory and preliminary.

Which tissues show expression changes for rs11148428?

GTEx v11 data show that the alternate allele at rs11148428 is associated with increased LINC00374 expression in testis tissue specifically. No other tissues reached significance in the available data.

What is an mQTL?

An mQTL, or metabolic quantitative trait locus, is a genetic variant associated with differences in measurable levels of a metabolite - a small molecule produced during metabolism - in blood or other tissues. Identifying mQTLs helps researchers link genetic differences to biological pathways.