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Association Between the ACTN3 R577X Polymorphism and Artistic Gymnastic Performance in Italy

机译:协会之间的ACTN3的基因R577X多态性在意大利和艺术体操表演

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摘要

The ACTN3 (R577X) gene encodes for a structural protein that is exclusively expressed in the Z-disc of type II muscle fibers. Homozygosis (577XX) for the stop codon in the ACTN3 polymorphism results in a-actinin-3 complete deficiency. Previous studies have shown low frequencies of the ACTN3 XX genotype in elite sprinters compared to the general population. This study tests 35 Italian elite gymnasts and 53 controls. ACTN3 XX genotype (2.8% vs. 18.8%; p < 0.04) and X allele (27.1% vs. 43.3%; p < 0.04) frequencies were significantly lower in gymnasts compared to controls. The ACTN3 XX genotype was underrepresented in female and male gymnasts compared to controls, but was only significant for males (male: 0% vs. 16.1%, p < 0.04; female: 5.5% vs. 22.7%, p = 0.39). These results suggest that a-actinin-3 is beneficial to skeletal muscle function in generating forceful contractions at high velocity. In conclusion, our results associated the ACTN3 R577X polymorphism with male and possibly female elite gymnastic performance.
机译:ACTN3的基因(R577X)基因编码结构蛋白质完全表达的Z-disc II型肌纤维。(577 xx) ACTN3的基因的终止密码子多态性导致a-actinin-3完成缺乏。XX ACTN3的基因的基因型频率在精英短跑运动员与普通人群相比。本研究测试35优秀体操运动员和53个意大利控制。0.04)和X等位基因(27.1% vs . 43.3%;体操运动员的频率显著降低而控制。代表名额不足的女性和男性体操运动员控制相比,但仅仅是重要的男性(男:0%比16.1%,p < 0.04;5.5%比22.7%,p = 0.39)。a-actinin-3有利于骨骼肌在产生有力的收缩功能高速度。ACTN3的基因R577X多态性与男性相关联甚至女性精英体操表演。

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