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首页> 外文期刊>Journal of human kinetics >Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes
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Association of the ACTN3 R577X Polymorphism in Polish Power-Orientated Athletes

机译：ACTN3 R577X多态性与波兰力量型运动员的关联

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Alpha-actinins are an ancient family of actin-binding proteins that play structural and regulatory roles in cytoskeletal organization. In skeletal muscle, alpha-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 a-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 sprint-power 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.
机译：α-肌动蛋白是古老的肌动蛋白结合蛋白家族，在细胞骨架组织中起结构和调节作用。在骨骼肌中，α-actinin-3蛋白是Z盘的重要结构组成部分，在该处锚定肌动蛋白细丝，有助于维持肌原纤维阵列。 ACTN3基因的577位密码子中常见的无意义多态性（R577X）在XX纯合子中导致α-actinin-3缺失。基于对ACTN3 R557X多态性在骨骼肌功能中的作用的了解，我们推测ACTN3的遗传多态性也可以改善短跑和力量能力。我们比较了ACTN3 R557X多态性的基因型和等位基因频率在两组相同的男性中高加索血统：158名以力量为导向的运动员和254名不参与竞技运动的志愿者。与对照组相比，以力量为导向的运动员组的基因型分布存在显着差异（P = 0.008）。然而，在所调查的运动员亚组中，只有短跑运动员和对照组之间ACTN3 R577X基因型的差异才具有统计学意义（P = 0.041）。与对照组相比，所有运动员的ACTN3 577X等位基因频率（30.69％vs. 40.35％; P = 0.005）显着不同。我们的结果支持以下假设：ACTN3 577XX等位基因可能对冲刺力量表现有一些有益的影响，因为与对照组相比，波兰以力量为本的运动员ACTN3 XX基因型明显减少。这一发现似乎与先前报道的病例对照研究一致。但是，应谨慎地将ACTN3多态性作为鉴定体育才能的遗传标记。

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