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Eynon N.,Victoria University | Ruiz J.R.,University of Granada | Ruiz J.R.,Karolinska Institutet | Femia P.,University of Granada | And 10 more authors.
PLoS ONE | Year: 2012

The ACTN3 R577X polymorphism (rs1815739) is a strong candidate to influence elite athletic performance. Yet, controversy exists in the literature owing to between-studies differences in the ethnic background and sample size of the cohorts, the latter being usually low, which makes comparisons difficult. In this case:control genetic study we determined the association between elite athletic status and the ACTN3 R577X polymorphism within three cohorts of European Caucasian men, i.e. Spanish, Polish and Russian [633 cases (278 elite endurance and 355 power athletes), and 808 non-athletic controls]. The odds ratio (OR) of a power athlete harbouring the XX versus the RR genotype compared with sedentary controls was 0.54 [95% confidence interval (CI): 0.34-0.48; P = 0.006]. We also observed that the OR of an endurance athlete having the XX versus the RR genotype compared with power athletes was 1.88 (95%CI: 1.07-3.31; P = 0.028). In endurance athletes, the OR of a "world-class" competitor having the XX genotype versus the RR+RX genotype was 3.74 (95%CI: 1.08-12.94; P = 0.038) compared with those of a lower ("national") competition level. No association (P>0.1) was noted between the ACTN3 R577X polymorphism and competition level (world-class versus national-level) in power athletes. Our data provide comprehensive support for the influence of the ACTN3 R577X polymorphism on elite athletic performance. © 2012 Eynon et al.


Eynon N.,Victoria University | Banting L.K.,Victoria University | Ruiz J.R.,University of Granada | Cieszczyk P.,Academy of Physical Education and Sport in Gdansk | And 10 more authors.
Journal of Science and Medicine in Sport | Year: 2014

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. © 2013 Sports Medicine Australia.


PubMed | University of Granada, Ural State University of Physical Culture, University Of Szczecin, Academy of Physical Education and Sport in Gdansk and 2 more.
Type: Comparative Study | Journal: Journal of science and medicine in sport | Year: 2013

To determine the association between the -actinin-3 (ACTN3) R577X polymorphism and elite team-sport athletic status in three cohorts of European team-sport athletes.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.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.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).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.


PubMed | Ural State University of Physical Culture, University Of Szczecin, University of Cagliari, Urals Research Center for Radiation Medicine of the Federal Medical Biological Agency of Russia and 5 more.
Type: Journal Article | Journal: PloS one | Year: 2016

Skeletal muscle strength and mass, major contributors to sprint/power athletic performance, are influenced by genetics. However, to date, only a handful of genetic variants have been associated with sprint/power performance. The ACVR1B A allele (rs rs2854464) has previously been associated with increased muscle-strength in non-athletic cohort. However, no follow-up and/or replications studies have since been conducted. Therefore, the aim of the present study was to compare the genotype distribution of ACVR1B rs2854464 between endurance athletes (E), sprint/power (S/P) athletes, mixed athletes (M), and non-athletic control participants in 1672 athletes (endurance athletes, n = 482; sprint/power athletes, n = 578; mixed athletes, n = 498) and 1089 controls (C) of both European Caucasians (Italian, Polish and Russians) and Brazilians. We have also compared the genotype distribution according to the athletes level of competition (elite vs. sub-elite). DNA extraction and genotyping were performed using various methods. Fishers exact test (adjusted for multiple comparisons) was used to test whether the genotype distribution of rs2854464 (AA, AG and GG) differs between groups. The A allele was overrepresented in S/P athletes compared with C in the Caucasian sample (adjusted p = 0.048), whereas there were no differences in genotype distribution between E athletes and C, in neither the Brazilian nor the Caucasian samples (adjusted p > 0.05). When comparing all Caucasian athletes regardless of their sporting discipline to C, we found that the A allele was overrepresented in athletes compared to C (adjusted p = 0.024). This association was even more pronounced when only elite-level athletes were considered (adjusted p = 0.00017). In conclusion, in a relatively large cohort of athletes from Europe and South America we have shown that the ACVR1B rs2854464 A allele is associated with sprint/power performance in Caucasians but not in Brazilian athletes. This reinforces the notion that phenotype-genotype associations may be ethnicity-dependent.


PubMed | University of Brighton, Volga Region State Academy of Physical Culture, Ural State University of Physical Culture, Murdoch Childrens Research Institute and 10 more.
Type: | Journal: BMC genomics | Year: 2016

To 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.To examine the association between these variants and sprint time in elite athletes.We 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.On 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.Despite 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.


Novoselova O.A.,Ural State University of Physical Culture | Lvovskaya E.I.,Ural State University of Physical Culture
Human Physiology | Year: 2012

The parameters of the lipid peroxidation-antioxidative defense (LPO-AOD) system were studied in 1st- to 11th-year pupils of comprehensive secondary schools of the city of Chelyabinsk, Russia, with different levels of habitual motor activity in order to determine the possible relationship between these parameters and motor activity. © 2012 Pleiades Publishing, Ltd.


Lvovskaya E.I.,Ural State University of Physical Culture | Derginskyi N.V.,Ural State University of Physical Culture | Sadova V.A.,Ural State University of Physical Culture | Symnaya D.B.,Ural State University of Physical Culture
Biomedit︠s︡inskai︠a︡ khimii︠a︡ | Year: 2016

The dynamics of lipoperoxides content and activity of antioxidant (glutathione peroxidase, superoxide dismutase, catalase) and prooxidant (xanthine oxidase) enzymes were investigated in the blood and cerebrospinal fluid of patients with traumatic brain injury of various severity depending on the left- or right-hemisphere localization of injuries. Reciprocal relationship between lipid peroxidation and oxidative modification of proteins from first to 14th day, increase of the level of total antioxidant activity, accompanied with the growth of GP and catalase activity, against the background of decrease in SOD activity from 1 to 7 day have been revealed. Were set lower "average" content of lipid peroxides in the blood and cerebrospinal fluid of patients with the subsequent development of lethal results in compare with cases of favorable outcomes, decrease of geptanofilic lipid peroxides in serum below the reference level, as well as the reduction of antioxidant activity in the blood and cerebrospinal fluid, associated with a sharp falling in superoxide dismutase activity and a significant increase of xanthine oxidase activity, which preceded the lethal results.Abstract available from the publisher.


Voisin S.,Victoria University of Melbourne | Cieszczyk P.,Academy of Physical Education and Sport | Cieszczyk P.,University Of Szczecin | Pushkarev V.P.,Ural State University of Physical Culture | And 10 more authors.
BMC Genomics | Year: 2014

Background: The endothelial PAS domain protein 1 (EPAS1) activates genes that are involved in erythropoiesis and angiogenesis, thus favoring a better delivery of oxygen to the tissues and is a plausible candidate to influence athletic performance. Using innovative statistical methods we compared genotype distributions and interactions of EPAS1 SNPs rs1867785, rs11689011, rs895436, rs4035887 and rs1867782 between sprint/power athletes (n = 338), endurance athletes (n = 254), and controls (603) in Polish and Russian samples. We also examined the association between these SNPs and the athletes' competition level ('elite' and 'sub-elite' level). Genotyping was performed by either Real-Time PCR or by Single-Base Extension (SBE) method.Results: In the pooled cohort of Polish and Russian athletes, 1) rs1867785 was associated with sprint/power athletic status; the AA genotype in rs1867785 was underrepresented in the sprint/power athletes, 2) rs11689011 was also associated with sprint/power athletic status; the TT genotype in rs11689011 was underrepresented sprint/power athletes, and 3) the interaction between rs1867785, rs11689011, and rs4035887 was associated with sprint/power athletic performance; the combinations of the AA genotype in rs4035887 with either the AG or GG genotypes in rs1867785, or with the CT or CC genotypes in rs11689011, were underrepresented in two cohorts of sprint/power athletes.Conclusions: Based on the unique statistical model rs1867785/rs11689011 are strong predictors of sprint/power athletic status, and the interaction between rs1867785, rs11689011, and rs4035887 might contribute to success in sprint/power athletic performance. © 2014 Voisin et al.; licensee BioMed Central Ltd.


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