Athletic excelling capability in a specific sport results from the combined influence of hundreds of genetic polymorphisms. The aim of the current study was to characterize athletes' polygenetic scores. We developed two polygenetic scores: (a) Power Genetic Distance Score based on two polymorphisms (PGDS2; ACEI/D, ACTN3C/T) or five polymorphisms (PGDS5; ACTN3C/T, ACEI/D, IL6‐174G/C, NOS3T/C, AGTMET235THR); and (b) Endurance Genetic Distance Score based on two polymorphisms (EGDS2; ACEI/D, ACTN3C/T) or five polymorphisms (EGDS5; PPARGC1AGly482Ser, PPARAintron7G/C, PPARDT294C, NRF2A/C, HIFC/T). Eighty‐two power‐speed athletes, 87 endurance athletes, and 119 nonathletic controls participated in the study. Genomic DNA was extracted from peripheral blood. Power‐speed athletes' mean PGDS2 (46.1) and PGDS5 (29.4) were significantly higher compared with their mean EGDS2 (36.4) and EGDS5 (23.1; P < 0.05, P < 0.01, respectively); and compared with controls' mean PGDS2 (36.6) and PGDS5 (24.2; P < 0.05, P < 0.05, respectively). Endurance athletes' mean EGDS2 (60.3) and EGDS5 (35.3) were significantly higher compared with their mean PGDS2 (26.9) and PGDS5 (21.8; P < 0.001, P < 0.001, respectively); and compared with controls' mean EGDS2 (51.2) and EGDS5 (26.1; P < 0.05, P < 0.001, respectively). We conclude that polygenetic scores can differentiate power‐speed from endurance athletes. Whether these scores may be used to identify elite power‐speed or endurance athletes' needs to be addressed in future studies.

BackgroundThe human ACTN3 gene encodes α-actinin-3, an actin-binding protein with a pivotal role in muscle structure and metabolism. A common genetic single nucleotide polymorphism (SNP) at codon 577 of the ACTN3 results in the replacement of an arginine (R) with a stop codon (X). The R allele is a normal functional version of the gene, whereas the X allele contains a sequence change that completely stops production of functional α-actinin-3 protein. The ACTN3 R577X polymorphism was found to be associated with power athletic performance especially among track and field athletes. The aim of the current study was to compare allelic and genotype frequencies of the ACTN3 R577X polymorphism among runners and swimmers specializing in different distances, and >non-athletic controls.MethodsOne hundred and thirty-seven runners, 91 swimmers and 217 controls, participated in the study. Runners were assigned to two subgroups according to their event specialty—long-distance runners (LDR) and short-distance runners (SDR). Swimmers were also assigned to two subgroups according to their main swimming event—long-distance swimmers (LDS) and short-distance swimmers (SDS). Genomic DNA was extracted from peripheral EDTA-treated anti-coagulated blood using a standard protocol. Genotypes were determined using the Taqman allelic discrimination assay.ResultsRunners’ genotype and allele differed significantly between LDR, SDR, and controls, with the lowest prevalence of RR genotype and R allele among LDR. XX genotype and X allele prevalence was significantly higher among LDR compared to the other groups (p < 0.01 for all). On the other hand, swimmers’ genotype and allele frequencies did not differ significantly between subgroups (LDS and SDS). Yet, LDS had significantly higher RR genotype and R allele frequencies compared to LDR.ConclusionsThe findings suggest that while ACTN3 R577X polymorphism is a genetic polymorphism that may distinguish between SDR and LDR, it cannot differentiate significantly between SDS and LDS.Trial RegistrationClinicalTrials.gov: NCT01319032Key PointsACTN3 R577X polymorphism is largely associated with running events specialization, with high prevalence of RR genotype and R allele frequency among short-distance runners compare to long-distance runners.Unlike in running, ACTN3 R577X polymorphism is not associated with swimming specialization.The inability of the ACTN3 R577X polymorphism to distinguish between swimmers specializing in different events, presumably since other factors such as body physique, technique, tactics, etc., are more likely to determine such a distinction.

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Athletic events can be divided into "aerobic-type event" or "anaerobic-type event" based on energetic usage. Power, speed, and strength, also used to specify sports subtypes. Weightlifters, sprinters, and jumpers feature high-intensity efforts lasting few seconds. However, their performance requires different proportions of power, speed, and strength. The aim of the current study was to examine genetic differences between subtypes of anaerobic athletes in 3 genetic variants: ACTN3 R577X, which is associated with muscle contractions, AGT Met235Thr which is associated with muscle growth, and PPARD T/C, which is associated with aerobic capacity. 71 sprinters and jumpers (S/J), 54 weightlifters (WL) and 86 controls participated in the study. Genomic DNA was extracted from peripheral blood using standard protocol. Genotypes were determined using Taqman allelic discrimination assay. ACTN3 RR-genotype frequency was significantly higher among S/J (39.4%) compared to WL (22.2%) and controls (18.6%). AGT ThrThr-genotype was significantly higher among WL (25.9%) compared to S/J (4.2%) and controls (12.8%). PPARD T294C genotype frequencies did not differ between groups. The results suggest that there may be a specific genetic makeup enabling an athlete to excel in speed-oriented events (sprints), rather than in strength-oriented events (weightlifting).