Expressive

rs10917219 (ZBTB40): Elite Athlete Metabolomics

Key takeaways

  • rs10917219 sits near PPIAP34 and ZBTB40 and was investigated in a metabolic GWAS of 490 elite athletes
  • The study profiled 751 serum metabolites and 275,016 SNPs to identify variants that shape blood chemistry in athletes
  • A sample size of 490 is small by GWAS standards, so findings for this specific variant are considered preliminary
  • The broader study found 104 metabolites linked to endurance level, including androgenic steroids and monohydroxy fatty acids

Key takeaways

  • rs10917219 is a genetic variant in the PPIAP34-ZBTB40 region investigated in a metabolic GWAS of 490 elite athletes
  • The study analyzed 275,016 SNPs alongside 751 serum metabolite measurements to identify variants shaping blood chemistry in athletes
  • Evidence comes from a single study with a sample size small by GWAS standards, placing findings in the preliminary category
  • The research used metabolomics as an intermediate step linking genetics to athletic performance, rather than directly associating DNA variants with performance outcomes

What the research says A metabolic genome-wide association study (mGWAS, a study that scans the genome for variants tied to measurable blood chemicals) in 490 elite athletes from diverse sports disciplines genotyped 275,016 SNPs and profiled 751 serum metabolites to identify metabolic quantitative trait loci (mQTLs, genetic variants that influence measurable blood metabolite levels). The study used a two-cohort design with meta-analysis to confirm endurance-associated metabolic signatures and compared identified mQTLs against reference datasets from non-elite populations. Specific effect size data for rs10917219 at this locus are not described in the available study excerpt.

Reported associations

  • Elite athletic performance context (metabolite levels): rs10917219, located in the PPIAP34-ZBTB40 chromosomal region, appears in a metabolic GWAS dataset of 490 elite athletes; the specific metabolite it is associated with and its effect size are not described in the available study text
  • Endurance-related metabolic signature: The broader study confirmed 104 metabolites associated with endurance sports level in a meta-analysis, including higher levels of pregnenolone, androgenic steroids, and monohydroxy fatty acids, and lower levels of diacylglycerols and acyl carnitines (molecules involved in fatty acid transport), providing the metabolic context within which this chromosomal region was investigated

Evidence quality Evidence for rs10917219 derives from a single metabolic GWAS in 490 elite athletes, a sample size considerably smaller than the tens of thousands of participants typically needed for well-powered genetic association studies of complex traits. The authors note directly that genetic research on elite athletic performance has been limited by small sample sizes and the complexity of the athletic phenotype. A meta-analysis across two athlete cohorts was applied to strengthen metabolite-endurance associations overall, but independent replication of the mQTL association at this specific locus in a separate population is not described in the available text. These factors indicate the evidence should be treated as preliminary and hypothesis-generating rather than conclusive.

Lifestyle considerations No lifestyle considerations on file for this variant.

Frequently asked questions

What is rs10917219?

rs10917219 is a single nucleotide polymorphism - a common one-letter DNA difference between people - located in the chromosomal region containing PPIAP34 and ZBTB40. It has been studied in the context of metabolomics research involving elite athletes.

What genes are near rs10917219?

rs10917219 is located near PPIAP34 and ZBTB40. The available research does not describe the specific biological roles of these genes in detail in relation to this variant.

Is rs10917219 linked to athletic performance?

The variant was identified within a metabolic GWAS of 490 elite athletes, but the specific metabolite or performance association for this locus is not detailed in the available study text. The research is considered preliminary.

How reliable is the evidence for rs10917219?

Evidence comes from a single study of 490 elite athletes, which is smaller than is typical for well-powered GWAS research. No independent replication of this specific locus is described in the available text, so findings should be treated as preliminary and hypothesis-generating.

What were the main findings of the elite athlete metabolomics GWAS?

The study identified 104 metabolites associated with endurance sports level, including higher levels of pregnenolone and androgenic steroids and lower levels of diacylglycerols and acyl carnitines. Novel genetic loci were reported at FOLH1, VNN1, and SULT2A1 in association with specific metabolites.