The <i>ACTN3</i> Gene in Elite Greek Track and Field Athletes

Papadimitriou, Ioannis; Papadopoulos, C.; Kouvatsi, Anastasia; Triantaphyllidis, Costas

doi:10.1055/s-2007-965339

Cited by 147 publications

(137 citation statements)

References 12 publications

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“…Both male and female elite sprint athletes had significantly higher frequencies of the 577R allele than that of control participants. Furthermore, in a number of studies conducted on European, Israeli, and North American athletes, it has been shown that 577XX genotype is underrepresented in sprint athletes and slightly overrepresented in endurance athletes compared with nonathletic controls [10][11][12][13][14][15]. These data, in addition to other recent studies, provide strong evidence that α-actinin-3 deficiency is detrimental to sprint and power performance.…”

Section: Introductionsupporting

confidence: 53%

Investigation of the Relationship Between a Genetic Polymorphism in ACTN3 and Elite Sport Performance Among Iranian Soccer Players

Honarpour

Mohseni

Hajiagha

et al. 2017

IRJ

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Objectives: Polymorphisms in α-actinin-3 (ACTN3) gene are considered to be important in the genetic predisposition to human athletic performance. Most of the activities in soccer such as jumping, striking the ball, and running are considered plyometric and explosive. Performance power during such activities depends on the strength of the muscles involved. Therefore, high muscle strength is considered crucial for soccer players. The primary objective of this study was to ascertain the association between ACTN3 R577X (rs1815739) polymorphism and sports athletism in Iranian elite male soccer players. Methods:In total, 90 top-level professional Iranian male soccer players and 200 nonathletic Iranian men from the general population participated in this case-control study. Exon 16 of ACTN3 was genotyped throughout polymerase chain reaction (PCR) followed by Restriction Fragment Length Polymorphism (RFLP) using the restriction enzyme DdeI and direct sequencing. The genotypic and allelic frequencies of R577X polymorphism in athletes were compared to the frequencies in the general population (nonathletes).Results: According to the results, the percentage distributions of 577RR and 577RX genotypes (41% and 37%, respectively) were significantly higher and lower, respectively, than that of controls (25% and 57%, respectively) (P<0.001). However, no statistically significant difference was found between allelic frequencies (P=0.20).

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Section: Introductionsupporting

confidence: 53%

Investigation of the Relationship Between a Genetic Polymorphism in ACTN3 and Elite Sport Performance Among Iranian Soccer Players

Honarpour

Mohseni

Hajiagha

et al. 2017

IRJ

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“…These findings suggest that the HIF1A Pro582Ser polymorphism by itself is not a factor in determining power/sprint performance. However, the wild-type HIF1A Pro/Pro genotype interacts with the ACTN3 RR genotype, which was previously associated with power/sprint performance [1][2][3][4].…”

Section: Discussionmentioning

confidence: 88%

“…Although sprint performance is likely a polygenic trait, only a few single nucleotide polymorphisms (SNP's), namely ACTN3 R577X [1][2][3][4], ACE I/D [5][6][7] and more recently eNOS -786 T/C [8] and, IL-6 -174G/C ( ), were found to be associated with sprint performance.…”

Section: Introductionmentioning

confidence: 99%

“…Energy system contribution during 200-to 1500-m running in highly trained athletes, it can be assumed that the proportion of the Ser582 allele will be higher among sprinters compared to endurance athletes and sedentary controls. Therefore, the purposes of the present study were 1) to compare the frequency distribution of the HIF1A Pro582Ser (rs11549465) polymorphism between athletes of sports with different demands (endurance vs. sprinters) as well as between athletes of competitive levels (elite-level vs. national-level), and 2) to test the influence of the interaction between the HIF1A Pro582Ser and the ACTN3 R577X (rs1815739) genotypes, since the ACTN3 R577X polymorphism was previously reported to influence power-oriented top-level athletic performance in a broad variety of ethnic groups [1][2][3][4].…”

Section: Introductionmentioning

confidence: 99%

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Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

et al. 2010

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Hypoxia-inducible factor 1 (HIF-1) is a transcription factor that regulates gene expression in response to hypoxia, and has been associated with athletic performance. The aims of this study were 1) to determine the frequency distribution of HIF1A Pro582Ser (rs11549465) polymorphism among 155 Israeli athletes (sprinters and endurance athletes) and 240 healthy controls and 2) to analyze the influence of the interaction between HIF1A Pro582Ser and ACTN3 R577X (rs1815739) genotypes on sprint performance. There were no differences across the HIF1A genotype and allele frequencies among endurance athletes, sprinters and controls. Similarly, no differences were found between the subgroups of top-level and national-level endurance athletes, or between top-level and national-level sprinters.Conversely, interaction effects were found between HIF1A Pro582Ser and ACTN3 R577X polymorphisms and sprinters. The proportion of HIF1A Pro/Pro + ACTN3 R/R genotypes was significantly higher in sprinters than in endurance athletes and healthy controls (P=0.002). In addition, the odds ratio for HIF1A Pro/Pro + ACTN3 R/R genotype carriers being a sprinter was 2.25 (95% confidence interval 1.24-4.1), and for HIF1A Pro/Pro + ACTN3 R/R genotype carriers being an endurance athlete was 0.5 (95% confidence interval 0.2-1.24). We conclude that HIF1A Pro582Ser polymorphism by itself is not critical in determining sprint performance. However, sprinter performance is determined by the interaction between the wild-type HIF1A Pro/Pro genotype and ACTN3 RR genotype.3

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“…15 The 577RR genotype has been previously associated with elite, power-oriented athletic status (i.e., sprinters, jumpers and throwers) in several cohorts of Caucasian athletes, 5,6,19 with one exception. 20 With regards to this, a recent meta-analysis showed a strong association between the 577RR genotype and power athletic performance especially among Europeans, regardless of the significant heterogeneity among the groups of athletes.…”

Section: Discussionmentioning

confidence: 99%

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

Eynon

Banting

Ruiz

et al. 2014

Journal of Science and Medicine in Sport

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a b s t r a c tObjectives: 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. 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.

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The ACTN3 Gene in Elite Greek Track and Field Athletes

Cited by 147 publications

References 12 publications

Investigation of the Relationship Between a Genetic Polymorphism in ACTN3 and Elite Sport Performance Among Iranian Soccer Players

Investigation of the Relationship Between a Genetic Polymorphism in ACTN3 and Elite Sport Performance Among Iranian Soccer Players

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

ACTN3 R577X polymorphism and team-sport performance: A study involving three European cohorts

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