Abstract
BackgroundThe genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The aims of this study were to investigate the association of common single-nucleotide polymorphisms (SNPs) with endurance athlete status in a large cohort of elite European athletes using GWAS approach, followed by replication studies in Russian and Japanese elite athletes and functional validation using metabolomics analysis.ResultsThe association of 476,728 SNPs of Illumina DrugCore Gene chip and endurance athlete status was investigated in 796 European international-level athletes (645 males, 151 females) by comparing allelic frequencies between athletes specialized in sports with high (n = 662) and low/moderate (n = 134) aerobic component. Replication of results was performed by comparing the frequencies of the most significant SNPs between 242 and 168 elite Russian high and low/moderate aerobic athletes, respectively, and between 60 elite Japanese endurance athletes and 406 controls. A meta-analysis has identified rs1052373 (GG homozygotes) in Myosin Binding Protein (MYBPC3; implicated in cardiac hypertrophic myopathy) gene to be associated with endurance athlete status (P = 1.43 × 10−8, odd ratio 2.2). Homozygotes carriers of rs1052373 G allele in Russian athletes had significantly greater VO2max than carriers of the AA + AG (P = 0.005). Subsequent metabolomics analysis revealed several amino acids and lipids associated with rs1052373 G allele (1.82 × 10–05) including the testosterone precursor androstenediol (3beta,17beta) disulfate.ConclusionsThis is the first report of genome-wide significant SNP and related metabolites associated with elite athlete status. Further investigations of the functional relevance of the identified SNPs and metabolites in relation to enhanced athletic performance are warranted.
Highlights
The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants
We aimed to investigate the association of multiple single-nucleotide polymorphisms (SNPs) and endurance athlete status in a relatively large cohort of European elite athletes specialized in sports with high and low/moderate aerobic component using genome-wide association studies (GWAS) approach and replicate our findings in elite Russian and Japanese athletes
The principle component analysis (PCA) of the genotyping data revealed no influence of sport disciplines (Figure 1A) or training modality (Figure 1B) on genotype distribution
Summary
The genetic predisposition to elite athletic performance has been a controversial subject due to the underpowered studies and the small effect size of identified genetic variants. The talent is believed to be a product of additive genetic components predisposing the athlete to endurance, speed, strength, flexibility and coordination trainability under the control of strong environmental cues including exercise and nutrition. In this model, the genetic predisposition together with ability to respond to training are the keys to the superior physical performance of elite athletes (Georgiades et al, 2017). The percent of maximal voluntary contraction (MVC), which reflects the greatest amount of tension a muscle can generate and hold, is used to classify sports into sporting disciplines with low, moderate and high power component (Mitchell et al, 2005)
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