Nir Eynon1, Lauren K Banting2, Jonatan R Ruiz3, Pawel Cieszczyk4, Dmitry A Dyatlov5, Agnieszka Maciejewska-Karlowska6, Marek Sawczuk6, Vladimir P Pushkarev5, Leonid M Kulikov5, Evgeny D Pushkarev5, Pedro Femia7, Nigel K Stepto8, David J Bishop8, Alejandro Lucia9. 1. School of Sport and Exercise Sciences, Victoria University, Australia; Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Australia. Electronic address: Nir.Eynon@vu.edu.au. 2. Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Australia. 3. Department of Physical Education and Sport, School of Sport Sciences, University of Granada, Spain. 4. Department of Tourism and Recreation, Academy of Physical Education and Sport in Gdansk, Poland. 5. Ural State University of Physical Culture, Russia. 6. Department of Physical Culture and Health Promotion, University of Szczecin, Poland. 7. Department of Biostatistics, School of Medicine, University of Granada, Spain. 8. School of Sport and Exercise Sciences, Victoria University, Australia; Institute of Sport, Exercise and Active Living (ISEAL), Victoria University, Australia. 9. Universidad Europea de Madrid, Spain.
Abstract
OBJECTIVES: To determine the association between the α-actinin-3 (ACTN3) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes. DESIGN: We compared the genotype and allele frequencies of the ACTN3 R577X (rs1815739) polymorphisms between team-sport athletes (n=205), endurance athletes (n=305), sprint/power athletes (n=378), and non-athletic controls (n=568) from Poland, Russia and Spain; all participants were unrelated European men. METHODS: Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. Genotyping was performed using several methods, and the results were replicated following recent recommendations for genotype-phenotype association studies. RESULTS: Genotype distributions of all control and athletic groups met Hardy-Weinberg equilibrium (all p>0.05). Team-sport athletes were less likely to have the 577RR genotype compared to the 577XX genotype than sprint/power athletes [odds ratio: 0.58, 95% confidence interval: 0.34-0.39, p=0.045]. However, the ACTN3 R577X polymorphism was not associated with team-sports athletic status, compared to endurance athletes and non-athletic controls. Furthermore, no association was observed for any of the genotypes with respect to the level of competition (elite vs. national level). CONCLUSIONS: The ACTN3 R577X polymorphism was not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls, and the observation that the 577RR genotype is overrepresented in power/sprint athletes compared with team-sport athletes needs to be confirmed in future studies.
OBJECTIVES: To determine the association between the α-actinin-3 (ACTN3) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes. DESIGN: We compared the genotype and allele frequencies of the ACTN3R577X (rs1815739) polymorphisms between team-sport athletes (n=205), endurance athletes (n=305), sprint/power athletes (n=378), and non-athletic controls (n=568) from Poland, Russia and Spain; all participants were unrelated European men. METHODS: Genomic DNA was extracted from either buccal epithelium or peripheral blood using a standard protocol. Genotyping was performed using several methods, and the results were replicated following recent recommendations for genotype-phenotype association studies. RESULTS: Genotype distributions of all control and athletic groups met Hardy-Weinberg equilibrium (all p>0.05). Team-sport athletes were less likely to have the 577RR genotype compared to the 577XX genotype than sprint/power athletes [odds ratio: 0.58, 95% confidence interval: 0.34-0.39, p=0.045]. However, the ACTN3R577X polymorphism was not associated with team-sports athletic status, compared to endurance athletes and non-athletic controls. Furthermore, no association was observed for any of the genotypes with respect to the level of competition (elite vs. national level). CONCLUSIONS: The ACTN3R577X polymorphism was not associated with team-sport athletic status, compared to endurance athletes and non-athletic controls, and the observation that the 577RR genotype is overrepresented in power/sprint athletes compared with team-sport athletes needs to be confirmed in future studies.
Authors: Myosotis Massidda; Valeria Bachis; Laura Corrias; Francesco Piras; Marco Scorcu; Claudia Culigioni; Daniele Masala; Carla M Calò Journal: Sports Med Open Date: 2015-03-27
Authors: S M Heffernan; L P Kilduff; R M Erskine; S H Day; J S McPhee; G E McMahon; G K Stebbings; J P H Neale; S J Lockey; W J Ribbans; C J Cook; B Vance; S M Raleigh; C Roberts; M A Bennett; G Wang; M Collins; Y P Pitsiladis; A G Williams Journal: Physiol Genomics Date: 2016-01-12 Impact factor: 3.107
Authors: Ana Paula Rennó Sierra; Giscard Humberto Oliveira Lima; Elton Dias da Silva; Jaqueline Fernanda de Souza Maciel; Marino Pereira Benetti; Rodrigo Assunção de Oliveira; Patrícia Fátima de Oliveira Martins; Maria Augusta Pedanti Kiss; Nabil Ghorayeb; Philip Newsholme; João Bosco Pesquero; Maria Fernanda Cury-Boaventura Journal: Front Genet Date: 2019-10-25 Impact factor: 4.599