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2011 | 28 | 55-61
Article title

Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes

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Abstracts
EN
Alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organization. In skeletal muscle, α-actinin-3 protein is an important structural component of the Z disc, where it anchors actin thin filaments, helping to maintain the myofibrillar array. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in α-actinin-3 deficiency in XX homozygotes. Based on knowledge about the role of ACTN3 R557X polymorphism in skeletal muscle function, we postulated that the genetic polymorphism of ACTN3 could also improve sprint and power ability.We compared genotypic and allelic frequencies of the ACTN3 R557X polymorphism in two groups of men of the same Caucasian descent: 158 power-orientated athletes and 254 volunteers not involved in competitive sport.The genotype distribution in the group of power-oriented athletes showed significant differences (P=0.008) compared to controls. However, among the investigated subgroups of athletes, only the difference of ACTN3 R577X genotype between sprinters and controls reached statistical significance (P=0.041). The frequencies of the ACTN3 577X allele (30.69% vs. 40.35%; P=0.005) were significantly different in all athletes compared to controls. Our results support the hypothesis that the ACTN3 577XX allele may have some beneficial effect on sprintpower performance, because the ACTN3 XX genotype is significantly reduced in Polish power-oriented athletes compared to controls.This finding seems to be in agreement with previously reported case-control studies. However, ACTN3 polymorphism as a genetic marker for sport talent identification should be interpreted with great caution.
Publisher

Year
Volume
28
Pages
55-61
Physical description
Dates
published
1 - 6 - 2011
online
4 - 7 - 2011
Contributors
  • Department of Physical Culture and Health Promotion, University of Szczecin, Poland
author
  • Department of Physical Culture and Health Promotion, University of Szczecin, Poland
  • Department of Clinical and Molecular Biochemistry, Pomeranian Medical University in Szczecin, Poland
  • Department of Genetics, University of Edynburg, England
  • Department of Genetics, University of Szczecin, Poland
  • Department of Sport Education, Academy of Physical Education and Sport, Poland
  • Galen Medical Center, Poland
  • Department of Physical Culture and Health Promotion, University of Szczecin, Poland
References
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Document Type
Publication order reference
Identifiers
YADDA identifier
bwmeta1.element.-psjd-doi-10_2478_v10078-011-0022-0
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