Association of the ACTN3 R577X polymorphism with power athlete status in Russians
Association of the ACTN3 R577X polymorphism with power athlete status in Russians
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DOI：
10.1007/s00421-008-0763-1
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发表时间：
2008-08-01
影响因子：
3
通讯作者：
Rogozkin, Viktor A.
中科院分区：
文献类型：
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作者：
Druzhevskaya, Anastasiya M.;Ahmetov, Ildus I.;Rogozkin, Viktor A.
α-肌动蛋白-3 (ACTN3) 基因编码仅存在于快速糖酵解肌纤维中的 Z 盘结构蛋白。 ACTN3 基因 (R577X) 密码子 577 中常见的无义多态性导致 XX 纯合子中的 α-肌动蛋白-3 缺乏。之前的报告显示，与普通人群相比，力量型运动员中 ACTN3 XX 基因型的比例较低。在本研究中，我们测试了 XX 基因型在俄罗斯力量型运动员中的代表性是否不足。该研究涉及 486 名具有地区或国家竞技水平的俄罗斯力量型运动员。将 ACTN3 基因型和等位基因频率与 1,197 个对照进行比较。与对照组相比，力量导向型运动员的 ACTN3 XX 基因型频率（6.4 vs. 14.2%；P < 0.0001）和 X 等位基因频率（33.3 vs. 38.7%；P = 0.004）显着较低。此外，在一群高度优秀的运动员中发现了 ACTN3 XX 基因型的最低频率（3.4%），这支持了以下假设：α-肌动蛋白-3 的存在对骨骼肌产生高速强力收缩的功能有有益影响。总之，ACTN3 R577X 多态性与俄罗斯人的力量运动员地位相关。
The alpha-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in alpha-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; P < 0.0001) and X allele (33.3 vs. 38.7%; P = 0.004) were significantly lower in power-oriented athletes compared to controls. Furthermore, the lowest (3.4%) frequency of the ACTN3 XX genotype was found in a group of highly elite athletes, supporting the hypothesis that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity. In conclusion, ACTN3 R577X polymorphism was associated with power athlete status in Russians.