ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study

Abstract

BackgroundTo date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. Aim: To examine the association between these variants and sprint time in elite athletes.MethodsWe collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants.ResultsOn average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively.ConclusionsDespite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final.Electronic supplementary materialThe online version of this article (doi:10.1186/s12864-016-2462-3) contains supplementary material, which is available to authorized users.

Is evolutionary loss our gain? The role of ACTN3 p.Arg577Ter (R577X) genotype in athletic performance, ageing, and disease

“…Subsequently, replication in national/international level athlete cohorts from Finland (Niemi & Majamaa, ), Greece (Papadimitriou, Papadopoulos, Kouvatsi, & Triantaphyllidis, ), Russia (Druzhevskaya, Ahmetov, Astratenkova, & Rogozkin, ), Israel (Eynon et al., ), and Poland (Cieszczyk et al., ) have been reported. A subsequent analysis of sprint/power cohorts also found that the ACTN3 RR genotype has a stronger association with sprinters compared with other track and field events such as jumpers, pole‐vaulters, decathletes, and throwers (Papadimitriou et al., ; Papadimitriou et al., ) and no Olympic‐finalist sprinter has yet been identified with the 577XX genotype (Eynon et al., ). Similarly, four Asian sprint/power cohorts from Taiwan (Chiu et al., ), Japan (Kikuchi et al., ; Mikami et al., ), Korea (Hong & Jin, ; Kim, Song, & Kim, ), and China (Yang et al., ) have also confirmed the lower ACTN3 XX frequency in elite sprinters compared with population controls (Table a).…”

Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

“…This is likely to be the case for RYR1 mutations, in addition to what has been reported regarding variants/polymorphisms in the ACE and α-actinin-3 (ACTN3) genes. [54][55][56] In other rare situations, a combination of two genetic disorders may alleviate exercise-related phenotypes such as the coexistence of α-thalassaemia and sickle cell trait, lowering risk for exercise collapse associated with the sickle cell trait (ECAST). 57 Emerging evidence suggests that specific polymorphic variants in a number of genes also increase the susceptibility of developing ERM (table 2).…”

Is testosterone responsible for athletic success in female athletes?

“…These are limitations of this study. In addition, there are already other factors that have been reported to show associations with sprinting ability, such as body mass, body mass index and height 32,33 , muscle fiber composition 34,35 and several genetic variants [36][37][38][39][40][41] .…”