Institute of Orthopedics, Xijing Hospital, The Fourth Military Medical University, Xi'an, China.
Int J Sports Med. 2010 Dec;31(12):913-6. doi: 10.1055/s-0030-1265176. Epub 2010 Oct 8.
The α-actinin 3 ( ACTN3) gene is absent in 18% of healthy white individuals owing to homozygosity for a premature stop codon polymorphism (rs1815739) and is only expressed in the Z line of fast glycolytic muscle fibres. Previous studies have shown highly significant association between ACTN3 genotype and sprint/power performance, while the nonfunctional allele (577X) was believed to provide an advantage for endurance performance. In this study we tested whether XX genotype was over-represented in Chinese endurance athletes compared to the general population. In a study of 250 Chinese endurance athletes of provincial or national competitive standard and 450 controls, we proved that the ACTN3 XX genotype (21.2 vs. 15.8%; P=0.02) and X allele (51.3 vs. 41.1%; P=0.019) were significantly over-represented in female endurance athletes compared to controls, while no genotype-related differences were observed in male endurance athletes. Besides, the frequency of the ACTN3 XX genotype (28.6%) was the highest in a group of highly elite athletes compared with other groups, which supported the hypothesis that the absence of α-actinin-3 provided some sort of advantage for endurance athletes. Our results indicated that ACTN3 R577X polymorphism was associated with endurance performance in female athletes but not male athletes in China.
由于纯合子提前终止密码子多态性（rs1815739），18%的健康白种人缺失α-辅肌动蛋白 3 (ACTN3) 基因，且该基因仅在快速糖酵解肌纤维的 Z 线中表达。先前的研究表明，ACTN3 基因型与短跑/力量表现高度相关，而非功能等位基因（577X）被认为有利于耐力表现。在这项研究中，我们测试了与普通人群相比，XX 基因型是否在耐力运动员中更为常见。在一项针对 250 名省级或国家级竞技标准的中国耐力运动员和 450 名对照者的研究中，我们证明与对照组相比，女性耐力运动员中 ACTN3 XX 基因型（21.2%比 15.8%；P=0.02）和 X 等位基因（51.3%比 41.1%；P=0.019）明显更为常见，而在男性耐力运动员中未观察到与基因型相关的差异。此外，与其他群体相比，高度精英运动员群体中 ACTN3 XX 基因型（28.6%）的频率最高，这支持了这样一种假设，即缺乏α-辅肌动蛋白-3 为耐力运动员提供了某种优势。我们的结果表明，在中国，ACTN3 R577X 多态性与女性运动员的耐力表现相关，但与男性运动员无关。
