ACTN 3/R577X, ADRB 3 and ACE polymorphisms in elite athletes in team sports

Istraživanje genoma, skupa podataka koji uz okolišne čimbenike određuje sposobnosti i karakteristike pojedinca, predstavlja najveći napredak i izazov u modernoj znanosti. Posljednjih tridesetak godina svjedoci smo velikog napretka u istraživanju genoma na svim razinama. U kontekstu sporta potvrđena je povezanost više od 200 genskih polimorfizama s motoričkim i funkcionalnim sposobnostima. Svrha ovog istraživanje je bila utvrditi pojavnost genotipova polimorfizma R577X u genu ACTN3, polimorfizma Trp64Arg u genu ADRB3 i insercijsko-delecijskog (Ins-Del) polimorfizma ACE gena kod igrača ekipnih sportova najvišeg natjecateljskog ranga na prostoru Hrvatske. Za navedene genske polimorfizme dosadašnja istraživanja ukazivala su na moguću povezanost s uspjehom u energetski ekstremnim sportovima kao što su power lifting i sprint te, s druge strane, maratonom i sportovima visoke dominacije aerobne izdržljivosti. Podatci o utjecaju navedenih gena u ekipnim sportovima u dosadašnjim istraživanjima bili su nekonzistentni. Uzorak se sastojao od 56 nogometaša, 40 košarkaša i 31 odbojkaša. Pretpostavljeni superioran genotip RR za sposobnost eksplozivnosti i snage polimorfizma R577X ACTN3 gena je bio zastupljen u 37% osoba u selekcioniranom uzorku vrhunskih sportaša. Istraživanje je pokazalo da postoje statistički značajne razlike u distribuciji RR genotipa polimorfizma ACTN3 gena između vrhunskih sportaša sva tri sporta koje smo analizirali u usporedbi s neselekcioniranom općom populacijom iz rada Massada i sur., 2015 koji je prvotno uzet kao referenca kontrolne neselekcionirane opće populacije. S druge strane, razlika nije bila značajna između selekcionirane populacije vrhunskih sportaša ovog rada s općom populacijom iz novije studije koja je geografski idealno odgovarala populaciji vrhunskih sportaša Republike Hrvatske iz ovog rada (Konakli i sur.,2017). Nije primijećena povećana učestalost genotipa Ins /Ins ACE gena niti genotipova Trp/Trp i Trp/Arg ADRB3 gena kod vrhunskih sportaša našeg istraživanja za koje se pretpostavljalo da bi bili učestaliji u sportu s naglašenom aerobnom komponentom. Rezultati su ukazali na statistički značajne razlike 'genskog sportskog indeksa' između nogometaša na pozicijama veznog reda i napada. Na temelju analiziranih podataka zaključeno je da ne postoji statistički značajna razlika u incidenciji određenih polimorfizama između sportaša ekipnih sportova i opće populacije ove regije. Ovo istraživanje otvara pitanje određivanja koeficijenta utjecaja genskih polimorfizama i njihove interakcije na razvoj sportskih sposobnosti i vještina koje determiniraju sportski uspjeh. Genome research, a set of data that together with environmental factors determines the abilities and characteristics of an individual, represents the greatest progress and challenge in modern science. In the last thirty years, we have witnessed great progress in genome research at all levels. In the context of sports, the association of more than 200 gene polymorphisms with motor and functional abilities has been confirmed. The purpose of this research was to determine the occurrence of genotypes of the R577X polymorphism in the ACTN3 gene, the Trp64Arg polymorphism in the ADRB3 gene, and the insertion-deletion (Ins-Del) polymorphism of the ACE gene in players of the highest competitive team sports in Croatia. For the aforementioned gene polymorphisms, previous research has indicated a possible connection with success in energy-extreme sports such as power lifting and sprinting and, on the other hand, with marathons and sports with a high dominance of aerobic endurance. Data on the influence of the mentioned genes in team sports in previous research were inconsistent. The sample consisted of 56 soccer players, 40 basketball players and 31 volleyball players. The presumed superior RR genotype for explosiveness and strength of the R577X ACTN3 gene polymorphism was present in 37% of individuals in a selected sample of elite athletes. The research showed that there are statistically significant differences in the distribution of the RR genotype of the ACTN3 gene polymorphism between top athletes of all three sports that we analyzed compared to the unselected general population from the work of Massad et al., 2015, which was originally taken as a reference of the control unselected general population. On the other hand, the difference was not significant between the selected population of top athletes in this paper and the general population from a recent study, which geographically ideally corresponded to the population of top athletes in the Republic of Croatia from this paper (Konakli et al., 2017). An increased frequency of the Ins /Ins ACE gene genotype or the Trp/Trp and Trp/Arg ADRB3 gene genotypes was not observed in the elite athletes of our study, which were assumed to be more frequent in sports with an emphasized aerobic component. The results indicated statistically significant differences in the 'genetic sports index' between football players in midfield and attacking positions. Based on the obtained data, it was concluded that there is no statistically significant difference in the incidence of studied polymorphisms between team sports athletes and the general population of this region. This research raises the question of the ability to asses the coefficient of influence of gene polymorphisms and their interactions on sport abilities and skills that determine the sports success.