Can we identify a power-oriented polygenic profile?

Abstract

Using the model originally developed by Williams and Folland (J Physiol 586: 113-121, 2008), we determined 1) a "total genotype score" (TGS, from the accumulated combination of the 6 polymorphisms, with a maximum value of "100" for the theoretically optimal polygenic score) in a group of elite power athletes, endurance athletes, and nonathletic controls, and 2) the probability for the occurrence of Spanish individuals with the "perfect" power-oriented profile (i.e., TGS = 100). We analyzed six polymorphism that are candidates to explain individual variations in elite power athletic status or power phenotypes (ACE I/D, ACTN3 R577X, AGT Met235Thr, GDF-8 K153R, IL6 -174 G/C, and NOS3 -786T>C) in 53 elite track and field power athletes (jumpers, sprinters), 100 nonathletic controls, and 100 elite endurance athletes (distance runners and road cyclists) (all Spanish Caucasian males). The mean TGS was significantly higher in power athletes (70.8 +/- 17.3) compared with endurance athletes (60.4 +/- 15.9; P < 0.001) and controls (63.3 +/- 13.2; P = 0.012), whereas it did not differ between the latter two groups (P = 0.366). A total of five power athletes (9.4%, all sprinters) had a theoretically "optimal" TGS of 100 vs. 0 subjects in the other two groups. The probability of a Spanish individual possessing a theoretically optimal polygenic profile for up to the six candidate polymorphisms we studied was very small, i.e., approximately 0.2% (or 1 in 500 Spanish individuals). We have identified a polygenic profile that allows us, at least partly, to distinguish elite power athletes from both endurance athletes and nonathletic population.

Mitochondrial biogenesis related endurance genotype score and sports performance in athletes

“…Such performance would seem to arise from the interaction between environmental factors (i.e., years of intense training stimuli) and an overall 'favourable' (though not necessarily 'optimal') genetic endowment. This is in agreement with recent findings with other Caucasian (Spanish) athletes Ruiz et al 2010;Santiago et al 2009). On the other hand, to note is that those polymorphisms for which we found greater differences between endurance athletes and controls (i.e., greater frequency of individuals with a GS of 2) were the three polymorphisms in NRF2, and PPARGC1A Gly482Ser (Table 4).…”

“…Thus, an important finding of our EGS model is that, from a genetic point of view, a distinction can be made between athletes excelling in endurance or 'aerobic' sports vs. those more suited for power/sprint events. It seems unlikely to find an individual with a polygenic profile suitable to excel in both power and endurance sport events, as is also supported from recent data (Ruiz et al 2010). Such genotype distinction (endurance vs. power) can be attributed to the fact that the phenotype traits that determine performance in both types of events are probably different.…”

“…We computed the combined influence of all six polymorphisms studied following the model used elsewhere Ruiz et al 2010;Williams and Folland 2008).…”

GNB3C825T Polymorphism and Elite Athletic Status: A Replication Study with Two Ethnic Groups

“…Thus, rather that the individual eff ect of a given polymorphism, it is likely the combined infl uence of several genetic variants, each with a signifi cant contribution, as well as the complex interaction of genetic variants (with or without an individual contribution) that explain individual variations in endurance / power performance [15,16,20] . Further research models in the fi eld of sports genetics should thus account for the polygenic nature of sports related phenotypes.…”

Association between Ventilatory Thresholds Related to Aerobic Fitness and MCT1 A1470T Polymorphism

“…Otherwise, the chi-squared and odds ratio tests, also performed in previous studies [24][25][26], showed significant results associating MCT1 TT genotype with VT. To date, there was no gold standard for statistical analysis in sports and physical activity genetics. While the ANOVA could be considered a more traditional statistical test to compare the magnitude of difference of the dependent variables, it is well accepted that the magnitude of influence of a single polymorphism is small and a little part of a complex genotype profile [27,28], explaining the non-significant ANOVA results in the present study. Thus, the analysis of the frequency of individuals with higher fitness level carrying different MCT1 genotypes could be an interesting method to detect smaller, but recurrent, differences between genotypes.…”