rs10852095 (NTRK3-AS1/MRPL46): Elite Athlete mQTL

Key takeaways

• rs10852095 sits at the NTRK3-AS1 and MRPL46 locus and was found in a metabolic genome-wide study of elite athletes.
• The study combined genotyping of 275,016 SNPs with profiling of 751 serum metabolites in 490 elite athletes.
• The specific metabolite associated with this locus is not described in the available study text.
• Evidence is from a single specialized study in a non-general population and should be considered preliminary until independently replicated.

What the research says A metabolic genome-wide association study (mGWAS) in 490 elite athletes combined serum metabolomics - profiling 751 metabolites - with genotyping of 275,016 quality-controlled single-nucleotide polymorphisms (SNPs) to identify metabolic quantitative trait loci (mQTLs), which are genetic variants associated with differences in metabolite levels. The study compared mQTLs identified in elite athletes against previously published mQTL reference data from non-elite populations, aiming to uncover variants that may be unique to or enriched in the elite athletic context. The variant rs10852095, at the NTRK3-AS1 - MRPL46 locus, was among the genetic variants in this analysis; the associated metabolite, p-value, and effect size for this specific variant are not described in the available study excerpt.

Reported associations

• Metabolic quantitative trait locus (mQTL) in elite athletes: rs10852095 was identified in the context of a serum metabolomics GWAS of 490 elite athletes; the particular serum metabolite linked to this locus and the corresponding effect size are not specified in the available study text (Al-Khelaifi et al., Scientific Reports, 2020 - no PMID available in provided study metadata).

Evidence quality The sole available study was conducted in a cohort of 490 elite athletes - a specialized and relatively small sample compared to standard large-scale GWAS efforts, which typically enroll tens of thousands to hundreds of thousands of participants. No independent replication of findings at this locus is described in the available text. Because the cohort consists exclusively of elite athletes, generalizability to broader general populations is uncertain. Specific statistical values such as p-value, beta coefficient, or effect size for this variant are not present in the provided study excerpt. On the basis of these limitations, any findings at this locus should be regarded as preliminary and exploratory.

Lifestyle considerations No lifestyle considerations on file for this variant.