Abstract
Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants. The aims of this study were to identify genetic predisposition to elite athletic performance by investigating genetically-influenced metabolites that discriminate elite athletes from non-elite athletes and to identify those associated with endurance sports. By conducting a genome wide association study with high-resolution metabolomics profiling in 490 elite athletes, common variant metabolic quantitative trait loci (mQTLs) were identified and compared with previously identified mQTLs in non-elite athletes. Among the identified mQTLs, those associated with endurance metabolites were determined. Two novel genetic loci in FOLH1 and VNN1 are reported in association with N-acetyl-aspartyl-glutamate and Linoleoyl ethanolamide, respectively. When focusing on endurance metabolites, one novel mQTL linking androstenediol (3alpha, 17alpha) monosulfate and SULT2A1 was identified. Potential interactions between the novel identified mQTLs and exercise are highlighted. This is the first report of common variant mQTLs linked to elite athletic performance and endurance sports with potential applications in biomarker discovery in elite athletic candidates, non-conventional anti-doping analytical approaches and therapeutic strategies.
Highlights
Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants
Subsequent mGWAS analysis was performed to reveal novel SNP-metabolite associations by comparing mGWAS hits identified in elite athletes with reference studies that were previously performed in non-elite athletes[25,26,27]
Novel mGWAS hits associated with endurance sports were determined
Summary
Genetic research of elite athletic performance has been hindered by the complex phenotype and the relatively small effect size of the identified genetic variants. Potential interactions between the novel identified mQTLs and exercise are highlighted This is the first report of common variant mQTLs linked to elite athletic performance and endurance sports with potential applications in biomarker discovery in elite athletic candidates, non-conventional anti-doping analytical approaches and therapeutic strategies. There is ample evidence suggesting influence of multiple genetic variants with small effect size over several phenotypic traits related to physical performance[2] The identification of these variants is crucial to understand the superior performance of elite athletes and has been a subject of study for many years[3,4,5]. The identification of novel mQTLs in athletes who experience unique environmental conditions including special diet and intensive exercise may provide invaluable tools for biomarker discovery in relation to exercise and performance. The aims of this study are (1) to confirm previously published[12] metabolites associated with endurance sports, (2) to discover novel genetic loci affecting metabolites in elite athletes by fine-mapping loci to putative functional variants at or near sentinel SNPs (a sentinel SNP or sentinel metabolite refers to a lead SNP or a lead metabolite) and (3) to discover novel variant loci associated with endurance metabolites underscoring the metabolic individuality of endurance athletes
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