Volga Region State Academy of Physical Culture

Kazan, Russia

Volga Region State Academy of Physical Culture

Kazan, Russia
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PubMed | University of Brighton, Bond Institute of Health and Sport, Pennington Biomedical Research Center, University of Stirling and 17 more.
Type: Consensus Development Conference | Journal: British journal of sports medicine | Year: 2015

The general consensus among sport and exercise genetics researchers is that genetic tests have no role to play in talent identification or the individualised prescription of training to maximise performance. Despite the lack of evidence, recent years have witnessed the rise of an emerging market of direct-to-consumer marketing (DTC) tests that claim to be able to identify childrens athletic talents. Targeted consumers include mainly coaches and parents. There is concern among the scientific community that the current level of knowledge is being misrepresented for commercial purposes. There remains a lack of universally accepted guidelines and legislation for DTC testing in relation to all forms of genetic testing and not just for talent identification. There is concern over the lack of clarity of information over which specific genes or variants are being tested and the almost universal lack of appropriate genetic counselling for the interpretation of the genetic data to consumers. Furthermore independent studies have identified issues relating to quality control by DTC laboratories with different results being reported from samples from the same individual. Consequently, in the current state of knowledge, no child or young athlete should be exposed to DTC genetic testing to define or alter training or for talent identification aimed at selecting gifted children or adolescents. Large scale collaborative projects, may help to develop a stronger scientific foundation on these issues in the future.


PubMed | University of Brighton, University of Michigan, Juntendo University, University of Stirling and 12 more.
Type: Journal Article | Journal: Physiological genomics | Year: 2016

Despite numerous attempts to discover genetic variants associated with elite athletic performance, injury predisposition, and elite/world-class athletic status, there has been limited progress to date. Past reliance on candidate gene studies predominantly focusing on genotyping a limited number of single nucleotide polymorphisms or the insertion/deletion variants in small, often heterogeneous cohorts (i.e., made up of athletes of quite different sport specialties) have not generated the kind of results that could offer solid opportunities to bridge the gap between basic research in exercise sciences and deliverables in biomedicine. A retrospective view of genetic association studies with complex disease traits indicates that transition to hypothesis-free genome-wide approaches will be more fruitful. In studies of complex disease, it is well recognized that the magnitude of genetic association is often smaller than initially anticipated, and, as such, large sample sizes are required to identify the gene effects robustly. A symposium was held in Athens and on the Greek island of Santorini from 14-17 May 2015 to review the main findings in exercise genetics and genomics and to explore promising trends and possibilities. The symposium also offered a forum for the development of a position stand (the Santorini Declaration). Among the participants, many were involved in ongoing collaborative studies (e.g., ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE). A consensus emerged among participants that it would be advantageous to bring together all current studies and those recently launched into one new large collaborative initiative, which was subsequently named the Athlome Project Consortium.


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.


Wang G.,University of Glasgow | Padmanabhan S.,University of Glasgow | Wolfarth B.,TU Munich | Fuku N.,Tokyo Metropolitan University | And 10 more authors.
Advances in Genetics | Year: 2013

Numerous reports of genetic associations with performance- and injury-related phenotypes have been published over the past three decades; these studies have employed primarily the candidate gene approach to identify genes that associate with elite performance or with variation in performance-and/or injury-related traits. Although generally with small effect sizes and heavily prone to type I statistic error, the number of candidate genetic variants that can potentially explain elite athletic status, injury predisposition, or indeed response to training will be much higher than that examined by numerous biotechnology companies. Priority should therefore be given to applying whole genome technology to sufficiently large study cohorts of world-class athletes with adequately measured phenotypes where it is possible to increase statistical power. Some of the elite athlete cohorts described in the literature might suffice, and collectively, these cohorts could be used for replication purposes. Genome-wide association studies are ongoing in some of these cohorts (i.e., Genathlete, Russian, Spanish, Japanese, United States, and Jamaican cohorts), and preliminary findings include the identification of one single nucleotide polymorphism (SNP; among more than a million SNPs analyzed) that associates with sprint performance in Japanese, American (i.e., African American), and Jamaican cohorts with a combined effect size of ~2.6 (P-value <5×10-7) and good concordance with endurance performance between select cohorts. Further replications of these signals in independent cohorts will be required, and any replicated SNPs will be taken forward for fine-mapping/targeted resequencing and functional studies to uncover the underlying biological mechanisms. Only after this lengthy and costly process will the true potential of genetic testing in sport be determined. © 2013 Elsevier Inc.


Drozdovska S.B.,National University of Physical Education and Sports of Ukraine | Dosenko V.E.,Ukrainian Academy of Sciences | Ahmetov I.I.,Volga Region State Academy of Physical Culture | Ilyin V.N.,National University of Physical Education and Sports of Ukraine
Biology of Sport | Year: 2013

Athletic performance is a polygenic trait influenced by both environmental and genetic factors. Objective: to investigate individually and in combination the association of common gene polymorphisms with athlete status in Ukrainians. Methods: A total of 210 elite Ukrainian athletes (100 endurance-oriented and 110 power-orientated athletes) and 326 controls were genotyped for ACE I/D, HIF1A Pro582Ser, NOS3-786 T/C, PPARA intron 7 G/C, PPARG Pro12Ala and PPARGC1B Ala203Pro gene polymorphisms, most of which were previously reported to be associated with athlete status or related intermediate phenotypes in different populations. Results: Power-oriented athletes exhibited an increased frequency of the HIF1A Ser (16.1 vs. 9.4%, P = 0.034) and NOS3 T alleles (78.3 vs. 66.2%, P = 0.0019) in comparison with controls. Additionally, we found that the frequency of the PPARG Ala allele was significantly higher in power-oriented athletes compared with the endurance-oriented athletes (24.7 vs. 13.5%; P = 0.0076). Next, we determined the total genotype score (TGS, from the accumulated combination of the three polymorphisms, with a maximum value of 100 for the theoretically optimal polygenic score) in athletes and controls. The mean TGS was significantly higher in power-oriented athletes (39.1 ± 2.3 vs. 32.6 ± 1.5; P = 0.0142) than in controls. Conclusions: We found that the HIF1A Ser, NOS3 T and PPARG Ala alleles were associated with power athlete status in Ukrainians.


PubMed | Pomeranian Medical University, University Of Szczecin, University of Gdansk, Institute of Sport and 2 more.
Type: | Journal: Physiological genomics | Year: 2017

The GSTP1 gene encodes glutathione S-transferase P1 which is a member of glutathione S-transferases (GSTs) that are a family of enzymes playing an important role in detoxification and in the antioxidant defense system. There were some the evidence indicating that GSTP1 c.313A>G polymorphism may be beneficial for exercise performance. Therefore, we have decided to verify the association between the frequency of GSTP1 c.313A>G variants, physical performance and athletes status in two cohorts: in a group of Russian athletes (n=507) and in an independent population of Polish athletes (n=510) in a replication study. The initial association study conducted with the Russian athletes revealed that the frequency of the minor G allele was significantly higher in all athletes than in controls, that was confirmed in the replication study of Polish athletes. In the combined cohort, the differences between athletes (n=1017) and controls (n=1246) were even more pronounced (32.7 vs 25.0%, P < 0.0001). Our findings emphasize that the G allele of the GSTP1 gene c.313A>G SNP is associated with improved endurance performance. These observations could support the hypothesis that the GSTP1 G allele may improve exercise performance by better elimination of exercise-induced ROS.


Gabbasov R.T.,Kazan State Medical University | Arkhipova A.A.,Kazan State Medical University | Borisova A.V.,Kazan State Medical University | Hakimullina A.M.,Saint Petersburg Research Institute of Physical Culture | And 5 more authors.
Journal of Strength and Conditioning Research | Year: 2013

Hypoxiainducible factor-1a (encoded by HIF1A gene) controls a number of genes that are implicated in various cellular functions including glycolysis and cell proliferation and differentiation. The rs11549465 C > T polymorphism in the HIF1A gene, which produces the amino acid substitution Pro582Ser, increases protein stability and transcriptional activity and, therefore, improves glucose metabolism. The aim of our study was to investigate the association between the HIF1A Pro582Ser polymorphism and elite strength athlete status. A total of 208 Russian strength athletes (122 weightlifters and 86 wrestlers) of regional or national competitive standard and 1,413 controls were genotyped using the polymerase chain reaction-restriction fragment length polymorphism method. We found that the frequency of the HIF1A 582Ser variant was significantly higher in weightlifters (13.1%, p = 0.0031) and wrestlers (15.7%, p = 0.0002) compared with the controls (7.5%). Additionally, the highest (21.1%, p = 0.0052) frequency of the 582Ser variant was found in a group of elite strength athletes. Thus, our study provides evidence for an association between the HIF1A gene Pro582Ser polymorphism and elite strength athlete status. Although more replication studies are needed, the preliminary data suggest an opportunity to use the analysis of HIF1A polymorphism along with other gene variations and standard phenotypic assessment in sports selection. © 2013 National Strength and Conditioning Association.


Nasibulina E.S.,Kazan State Medical University | Borisova A.V.,Kazan State Medical University | Akhmetov I.I.,Volga Region State Academy of Physical Culture
Voprosy Pitaniia | Year: 2013

Obesity is a multifactorial disease which depends on the interaction between genome and environment. Fatty acid-binding protein 2 (FABP2) regulates lipid transport, intestinal absorption and metabolism. The aim of the study was to investigate the interrelation between the FABP2 gene Ala54Thr polymorphism, body mass index and body fat mass and to study distribution of genotypes and alleles frequencies of FABP2 gene in athletes and individuals who are not involved in sports. 315 athletes of different sport disciplines and levels and 612 controls (predominantly students) participated in the study. Genotyping for the FABP2 gene Ala54Thr polymorphism was performed by PCR. Body composition was analyzed by bioimpedance method. The study did not confirm the association of FABP2 gene Ala54Thr polymorphism with the risk of obesity and body fat mass. However, the frequency of the Thr54 allele was significantly higher in elite stayers (50,0%, p=0,025) and combat athletes (46,2%, p=0,013) in comparison with controls (32,2%). Thus, FABP2 gene Ala54Thrpolymorphism is associated with the predisposition to endurance athletic performance.


Ahmetov I.I.,Volga Region State Academy of Physical Culture | Ahmetov I.I.,Kazan State Medical University | Fedotovskaya O.N.,Karolinska Institutet
Advances in Clinical Chemistry | Year: 2015

Understanding the genetic architecture of athletic performance is an important step in the development of methods for talent identification in sport. Research concerned with molecular predictors has highlighted a number of potentially important DNA polymorphisms contributing to predisposition to success in certain types of sport. This review summarizes the evidence and mechanistic insights on the associations between DNA polymorphisms and athletic performance. A literature search (period: 1997-2014) revealed that at least 120 genetic markers are linked to elite athlete status (77 endurance-related genetic markers and 43 power/strength-related genetic markers). Notably, 11 (9%) of these genetic markers (endurance markers: ACE I, ACTN3 577X, PPARA rs4253778 G, PPARGC1A Gly482; power/strength markers: ACE D, ACTN3 Arg577, AMPD1 Gln12, HIF1A 582Ser, MTHFR rs1801131 C, NOS3 rs2070744 T, PPARG 12Ala) have shown positive associations with athlete status in three or more studies, and six markers (CREM rs1531550 A, DMD rs939787 T, GALNT13 rs10196189 G, NFIA-AS1 rs1572312 C, RBFOX1 rs7191721 G, TSHR rs7144481 C) were identified after performing genome-wide association studies (GWAS) of African-American, Jamaican, Japanese, and Russian athletes. On the other hand, the significance of 29 (24%) markers was not replicated in at least one study. Future research including multicenter GWAS, whole-genome sequencing, epigenetic, transcriptomic, proteomic, and metabolomic profiling and performing meta-analyses in large cohorts of athletes is needed before these findings can be extended to practice in sport. © 2015 Elsevier Inc.


Ahmetov I.I.,Volga Region State Academy of Physical Culture | Rogozkin V.A.,St Petersburg Research Institute Of Physical Culture
Human Physiology | Year: 2013

The purpose of this review was to provide an understanding of the role of PGC-1α in the regulation of skeletal muscle metabolism and to describe the results of studies on the association of the polymorphism gene PPARGC1A with human muscle performance. © 2013 Pleiades Publishing, Ltd.

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