rs10754192 (KCNT2): Athletic Metabolomics GWAS

Key takeaways

• This variant was examined in a genome-wide metabolomics study of 490 elite athletes linking genetic variants to measurable metabolite levels.
• The study (Scientific Reports, 2020) genotyped 275,016 single-nucleotide polymorphisms and measured 751 serum metabolites to identify metabolic quantitative trait loci.
• Evidence for this specific variant comes from a single study in a specialized athletic population; findings may not generalize to the broader population.
• Specific effect sizes and metabolite associations for this variant are not reported in the available study text.

What the research says A metabolic genome-wide association study (mGWAS, a large-scale scan linking common DNA variants to measurable metabolite levels in blood) published in Scientific Reports (2020) genotyped 275,016 SNPs (single-nucleotide polymorphisms, meaning single-position differences in the DNA sequence) in 490 elite athletes and measured 751 serum metabolites. The study identified novel metabolic quantitative trait loci (mQTLs, variants that influence metabolite concentrations) in FOLH1, VNN1, and SULT2A1, and confirmed 104 metabolites associated with endurance sports through meta-analysis. Specific metabolite associations and effect sizes for rs10754192 in KCNT2 are not detailed in the available study text, as the provided excerpt does not include individual SNP results tables.

Reported associations

• Elite athletic performance (metabolomics context): This variant was part of a genome-wide scan of 275,016 SNPs in 490 elite athletes searching for genetic influences on metabolite levels; individual association data for this SNP are not present in the provided study excerpt.
• Endurance sports metabolites (general study findings): A meta-analysis within the study confirmed 104 metabolites associated with endurance sports, including elevated pregnenolone, androgenic steroids, and monohydroxy fatty acids, and reduced diacylglycerols and acyl carnitines among high-endurance athletes.

Evidence quality The single available source is a metabolomics GWAS of 490 elite athletes published in Scientific Reports (2020). The study's authors acknowledge that research in this area faces challenges from small sample sizes and phenotype complexity, and a prior meta-analysis of over 4,000 athletes (1,520 endurance athletes and 2,760 controls) found no evidence of common genetic variation affecting endurance status in world-class athletes. The cohort consists entirely of elite athletes, limiting applicability to other populations. No independent replication is cited for this specific variant, and specific p-values or effect sizes for rs10754192 are not present in the provided text. Evidence for this locus must be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.