Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

Moran, Colin Neil; Yang, Nan; Bailey, Mark E.S.; Τσιόκανος, Αθανάσιος; Jamurtas, Athanasios Z.; MacArthur, Daniel G.; North, Klaus; Pitsiladis, Yannis; Wilson, Richard H.

doi:10.1038/sj.ejhg.5201724

Cited by 173 publications

(149 citation statements)

References 15 publications

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“…However, almost 29% of the sprinters in the present study harbored the Pro/Pro+ R/R genotype as opposed to only 8% and 15% in the endurance athlete group and the control group, respectively. This emphasizes the important role of the functional ACTN3 R/X polymorphism in power/sprint performance, since it is well established that actinin-3 in these athletes is presented in higher amounts in the RR genotype than in other genotypes [4], and may be necessary for developing forceful contractions at high velocity [18].…”

Section: Discussionmentioning

confidence: 81%

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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Section: Discussionmentioning

confidence: 81%

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

et al. 2010

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“…Results of polymerase chain reaction followed by restriction fragment length polymorphism (PCR-RFLP) on 8% polyacrylamide gel electrophoresis and visualized under UV light by silver staining. After digestion with DdeI enzyme, 577X allele shows two fragments with 205 and 85 bp, whereas 557R allele presents three fragments with 105, 97, and 85 bp athletes [9,12,13] or is associated with inferior performance [19]. Two recent meta analyses [20,21] and a revision [22] of the literature with regards to the effect of ACTN3 on athletic performance indicate that the 577RR genotype is affiliated with sprint-power athletes among Caucasians.…”

Section: Discussionmentioning

confidence: 99%

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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“…Perhaps the best known example of a performance variant is alpha-actinin-3 (ACTN3) R577X (rs1815739) which has been strongly linked to sprinting ability (Moran et al, 2007;Yang et al, 2003) and less conclusively with endurance ability (Alfred et al, 2011). ACTN3…”

Section: Common Genetic Variantsmentioning

confidence: 99%

Tour de France Champions born or made: where do we take the genetics of performance?

Moran

Pitsiladis

2016

Journal of Sports Sciences

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(200 words)Cyclists in the Tour de France are endurance specialists. Twin and family studies haveshown that approximately 50% of the variance in a number of performance related phenotypes (whether measured at baseline, i.e. natural talent, or in response to training) including those important to cycling can be explained by genetic variation. Research into the specific genetic variants that are responsible has identified over 200 genes containing common genetic variants involved in the genetic predisposition to physical performance.However, typically these explain only a small portion of the variance, perhaps 1-2% and collectively they rarely explain anything approaching the 50% of the variance identified in the twin and family studies. Thus, there is a gap in our understanding of the relationship between heritability and performance. This gap may be bridged by investigation of rare variants or epigenetic variation or by altering study designs through increased collaborations to pool exiting cohorts together. Initial findings from such efforts show promising results. This mini-review will touch on the genetics and epigenetics of sporting performance, how they relate to cyclists in the Tour de France and where best future efforts may be directed as well as discuss some preliminary research findings.

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Association analysis of the ACTN3 R577X polymorphism and complex quantitative body composition and performance phenotypes in adolescent Greeks

Cited by 173 publications

References 15 publications

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

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

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

Tour de France Champions born or made: where do we take the genetics of performance?

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