rs114817042 (AKT3): Athletic Metabolomics Variant

Key takeaways

• rs114817042 sits near the AKT3 gene and was identified in a metabolic GWAS of 490 elite athletes.
• Evidence is from a single study and should be considered preliminary.
• The broader study confirmed 104 metabolites linked to endurance sports, including steroid and fatty acid markers.
• No specific metabolite or effect size for this variant is reported in the available study text.

What the research says rs114817042 was identified in the context of a metabolic genome-wide association study (GWAS, a type of large-scale scan that looks for genetic variants associated with measurable biological traits) conducted in 490 elite athletes from multiple sport disciplines. The study examined metabolomics quantitative trait loci (mQTLs), meaning genetic variants that influence levels of circulating metabolites (small molecules in blood that reflect metabolic activity), and confirmed 104 metabolites associated with endurance sports, including markers of steroid biosynthesis, fatty acid metabolism, oxidative stress, and energy-related pathways. The specific metabolite linked to rs114817042 and its effect size are not stated in the provided study text.

Reported associations

• Metabolic traits in elite athletes: Identified in a metabolic GWAS of 490 elite athletes examining 275,016 genetic variants and 751 metabolites. The specific metabolite associated with this variant is not described in the available study text. The study confirmed 104 metabolites tied to endurance sports as part of the broader mQTL analysis, including elevation in pregnenolone, androgenic steroids, and monohydroxy fatty acids, and reduction in diacylglycerols and acyl carnitines.

Evidence quality Evidence for rs114817042 comes from a single metabolic GWAS of 490 elite athletes, a small sample by GWAS standards (large-scale genetic studies typically require tens of thousands of participants for robust findings). The study assessed 275,016 SNPs (single nucleotide polymorphisms, the most common form of genetic variant) that passed quality control and measured 751 metabolites. No independent replication of this specific variant's association is described in the available text, and variant-level effect sizes and p-values for rs114817042 are not reported in the provided excerpt. The exclusive focus on elite athletes limits generalizability to the broader population. The evidence should be considered preliminary.

Lifestyle considerations No lifestyle considerations on file for this variant.