Abstract
BackgroundThe ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes.MethodsWe compared the genotype and allele frequency of the ACTN3 R577X polymorphism between team sport athletes (n = 75), endurance athletes (n = 40), sprint/power athletes (n = 64), and non-athletic healthy controls (n = 192) from Italy. Genomic DNA was collected using a buccal swab. Extraction was performed according to the manufacturer’s directions provided with a commercially available kit (Qiagen S.r.l., Milan, Italy).ResultsTeam sport athletes showed a lower frequency of the 577RR genotype compared to the 577XX genotype than sprint/power athletes (p = 0.044). However, the ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.ConclusionsOur results agree with a recent large-scale study involving athletes from Spain, Poland, and Russia. The ACTN3 R577X polymorphism was not associated with team sport athletic status compared to endurance athletes and non-athletic controls.
Highlights
The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match
The aim of this study was to analyze the associations between ACTN3 R577X polymorphisms and elite team sport athletic status in a group of Italian athletes and to compare their genotype distributions with elite sprint/ power athletes, endurance athletes, and non-athletic controls
Team sport athletes had a lower frequency of the 577RR genotype compared to the 577XX genotype than the sprint/power athletes (p = 0.044) (Table 2)
Summary
The ACTN3 gene may influence performance in team sports, in which sprint action and high-speed movements, regulated by the anaerobic energy system, are crucial to the ultimate success of a match. The aim of this study was to determine the association between the ACTN3 R577X (rs1815739) polymorphism and elite team sport athletic status in Italian male athletes. One of the most common targets of investigation has been a single nucleotide polymorphism (SNP) in the ACTN3 gene, which encodes the alpha-actinin-3 protein [1]. This polymorphism leads to a premature stop codon (X), rather than an arginine (R) at position 577. The alpha-actinin-3 protein is almost exclusively expressed in fast, glycolytic, and type IIX fibers that are responsible for the generation of rapid forceful contractions during activities such as sprinting.
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