rs11987166 (CPA6): Metabolic Variant in Elite Athletes
Key takeaways
- rs11987166 is a variant in the CPA6 gene region identified in metabolomics research on elite athletes.
- A metabolic GWAS of 490 elite athletes examined genetically-influenced metabolites related to athletic performance.
- GTEx population data from 953 donors link the alternative allele to reduced CPA6 expression in esophageal mucosa.
- Evidence is preliminary, with no replication data and limited detail on the specific metabolite association available.
Key takeaways
- rs11987166 is a variant in the CPA6 (Carboxypeptidase A6) gene region, identified through metabolomics research in elite athletes.
- A metabolic genome-wide association study (mGWAS) of 490 elite athletes examined genetically-influenced metabolites tied to athletic performance.
- Population-level expression data from GTEx v11 (953 donors) link the alternative allele to reduced expression of this gene in esophageal mucosa tissue.
- Evidence is preliminary and limited to a small athlete cohort and one tissue expression dataset, with no replication reported.
What the research says Al-Khelaifi et al. (2020, Scientific Reports) conducted an mGWAS - a study that tests associations between genetic variants and metabolite levels - in 490 elite athletes, genotyping 275,016 common single-nucleotide variants alongside high-resolution profiling of 751 serum metabolites to identify metabolic quantitative trait loci (mQTLs, genetic variants that influence concentrations of specific metabolites in the blood). The study aimed to identify novel genetic predispositions relevant to elite athletic performance and endurance sports, with loci in FOLH1, VNN1, and SULT2A1 highlighted as the primary novel mQTL findings in the study abstract. Tissue-level expression data from GTEx v11 (953 donors) indicate the alternative allele of rs11987166 is associated with reduced expression of the gene in esophageal mucosa tissue (effect size -0.18 on a log2-normalized scale, p=8.4e-6) GTEx Portal.
Reported associations
- Metabolic QTL in elite athletes: rs11987166 appears as a metabolic quantitative trait locus in an mGWAS of 490 elite athletes studying genetically-influenced metabolites linked to athletic performance; the specific metabolite association for this variant is not detailed in the available study excerpt.
- CPA6 expression in esophageal mucosa: The alternative allele is associated with reduced CPA6 expression (effect size -0.18 on a log2-normalized scale, p=8.4e-6) in esophageal mucosa tissue according to GTEx v11 data (953 donors) GTEx Portal.
Evidence quality The mGWAS by Al-Khelaifi et al. (2020) included 490 elite athletes, a modest sample size by GWAS standards that limits statistical power for small-effect variants. The specific metabolite associated with rs11987166 and its effect size within that study are not available in the provided text excerpt, making direct appraisal of the athletic-performance association difficult. The GTEx eQTL result (953 donors, FDR<0.05) GTEx Portal offers moderate-confidence evidence for a tissue-level expression effect in esophageal mucosa. No independent replication of either association is available from the provided materials. On balance, evidence for rs11987166 is preliminary.
Tissue-specific expression effects
- CPA6: The alternative allele is associated with reduced expression in esophageal mucosa; no other tissues showed a significant expression QTL effect in the GTEx v11 dataset provided GTEx Portal.
Lifestyle considerations No lifestyle considerations on file for this variant.
Frequently asked questions
What is rs11987166?
rs11987166 is a single nucleotide variant located in the CPA6 gene region. It has been studied in a metabolomics-based genome-wide association study of elite athletes and appears in population-level gene expression databases.
What is the CPA6 gene?
CPA6 stands for Carboxypeptidase A6. GTEx expression data from 953 donors show that the alternative allele of rs11987166 is associated with reduced CPA6 gene activity specifically in esophageal mucosa tissue.
Is rs11987166 linked to athletic performance?
rs11987166 appeared in a metabolic GWAS of 490 elite athletes investigating genetically-influenced metabolites related to performance and endurance. The specific metabolite this variant influences is not described in the available study text, and the evidence is preliminary.
What does the GTEx data show for rs11987166?
GTEx v11 data from 953 donors show the alternative allele is associated with reduced CPA6 expression in esophageal mucosa tissue (effect size -0.18, p=8.4e-6, FDR<0.05). This is a tissue-level gene expression finding, not a disease or performance association.
What is an mQTL?
An mQTL (metabolic quantitative trait locus) is a genetic variant that influences the level of a specific metabolite in the blood. rs11987166 was studied in the context of mQTL research in 490 elite athletes to understand how genetics shapes metabolite profiles linked to physical performance.