Genetic profiles to identify talents in elite endurance athletes and professional football players

Abstract

The genetic profile that is needed to identify talents has been studied extensively in recent years. The main objective of this investigation was to approach, for the first time, the study of genetic variants in several polygenic profiles and their role in elite endurance and professional football performance by comparing the allelic and genotypic frequencies to the nonathlete population. In this study, genotypic and allelic frequencies were determined in 452 subjects: 292 professional athletes (160 elite endurance athletes and 132 professional football players) and 160 non-athlete subjects. Genotyping of polymorphisms in liver metabolisers (CYP2D6, GSTM1, GSTP and GSTT), iron metabolism and energy efficiency (HFE, AMPD1 and PGC1a), cardiorespiratory fitness (ACE, NOS3, ADRA2A, ADRB2 and BDKRB2) and muscle injuries (ACE, ACTN3, AMPD1, CKM and MLCK) was performed by Polymerase Chain Reaction-Single Nucleotide Primer Extension (PCR-SNPE). The combination of the polymorphisms for the "optimal" polygenic profile was quantified using the genotype score (GS) and total genotype score (TGS). Statistical differences were found in the genetic distributions between professional athletes and the non-athlete population in liver metabolism, iron metabolism and energy efficiency, and muscle injuries (p<0.001). The binary logistic regression model showed a favourable OR (odds ratio) of being a professional athlete against a non-athlete in liver metabolism (OR: 1.96; 95% CI: 1.28-3.01; p = 0.002), iron metabolism and energy efficiency (OR: 2.21; 95% CI: 1.42-3.43; p < 0.001), and muscle injuries (OR: 2.70; 95% CI: 1.75-4.16; p < 0.001) in the polymorphisms studied. Genetic distribution in professional athletes as regards endurance (professional cyclists and elite runners) and professional football players shows genetic selection in these sports disciplines.

Association Between Total Genotype Score and Muscle Injuries in Top-Level Football Players: a Pilot Study

“…The results of this pilot study, according to the previous finding [ 10 , 42 , 69 ], highlight that muscle injuries are a very complex phenotype trait influenced by multiple gene variants, suggesting the need to develop a genetic risk score profile for muscle injuries in professional football players. In future, this would allow the coaches and the medical staff of the football teams to adapt the training protocols according to the genetic risk profile of the football players to avoid overloading the athletes most at risk of developing muscle injuries.…”

“…The importance of analyzing the combined influence of different candidate gene polymorphisms on complex phenotype traits, such as muscle injuries and/or athletic performance, has recently been shown [ 10 , 42 ]. Our results agree with the recent finding of Maestro et al [ 10 ], who analyzed the influence of some polymorphisms ( AMPD1, ACE, ACTN3, CKM, and MLCK ) on muscle injuries in soccer.…”

“…Varillas-Delgrado et al [ 42 ] found that the combined influence of some selected polymorphisms ( ACE, ACTN3, AMPD1, CKM , and MLCK ) showed a favorable odds ratio of being a professional athlete against a non-athlete in muscle injuries (OR 2.7; 95% CI 1.7–4.1; p < 0.001). The same authors [ 69 ] recently showed that TGS analysis, combining influence of AMPD1 (rs17602729), ACE (rs4646994), ACTN3 (rs1815739), CKM (rs8111989) and MLCK (rs2849757 and rs2700352) polymorphisms, appears to correlate with elite endurance athletes at higher risk for injury.…”

“…However, it is also necessary to highlight that the major limitations of the present study are represented by the small sample size utilized for the analyses, which means that future studies are needed to replicate the results in different football player cohorts. Moreover, new SNPs implicated in muscle injuries in non-Italians professional football players have been discovered, such as AMPD1 [ 10 ] and CKM [ 42 ], that have not been included in our model and can also explain individual variations, together with other numerous genetic variants implicated in the susceptibility to develop muscle injuries in football. Last but not least, our conclusions are referred only to the male football players, highlighting the need to replicate our findings also in the female football player’s cohort.…”

“…Varillas-Delgado et al [ 42 ] recently demonstrated that the genetic distribution in professional football players is different to the non-athlete population, with a “favorability” of the polygenic profile in muscle injuries to professional athlete status in elite endurance athletes and professional football players.…”