ACTN3 genotype in professional endurance cyclists
ACTN3 genotype in professional endurance cyclists
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DOI：
10.1055/s-2006-923862
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发表时间：
2006-11-01
影响因子：
2.5
通讯作者：
Foster, C.
中科院分区：
文献类型：
--
作者：
Lucia, A.;Gomez-Gallego, F.;Foster, C.
z盘蛋白（α -肌动蛋白-3）仅在II型肌纤维中表达，II型肌纤维负责产生高速的强力收缩。尽管α -肌动蛋白-3具有进化保守性，但由于ACTN3基因R577X多态性的纯合性，大约每五个欧洲血统的白种人中就有一个完全缺乏这种蛋白质。这与最近对优秀运动员的研究结果一起表明，“零”XX多态性可能会给耐力表现项目带来一些优势。为了验证这一假设，我们研究了50名顶级男性职业自行车运动员R577X基因型的频率分布（26.9 +/- 0.4年[平均+/- SEM]； VO2max: 73.5 +/- 0.8 ml中心点kg（-1中心点）min(-1)）。他们的研究结果与52名奥林匹克级男性耐力跑步者（26.8 +/- 0.6岁；最大摄氧量：73.3 +/- 0.8 ml中心点kg（-1）中心点min(-1)）和123名健康、久坐的男性对照进行了比较。所有受试者均为欧洲血统的高加索人。两组间差异无统计学意义（p < 0.05）： RR: 28.5%；RX: 53.6%, XX: 17.9%；RR: 28.0%;骑自行车者RX: 46.0%, XX: 26.0%；RR: 25.0%；处方:57.7%;XX：跑步者17.3%)。各R577X基因型运动员携带者的耐力表现指标（vo2峰值或通气阈值）均无差异。总之，尽管α -肌动蛋白-3缺失的XX基因型可能对人类短跑表现有害，但ACTN3基因的R577X多态性似乎并没有赋予男性运动员维持极限耐力表现的能力优势。
The Z-disk protein (alpha-actinin-3 is only expressed in type II muscle fibres, which are responsible for generating forceful contractions at high velocity. Despite the evolutionary conservation of alpha-actinin-3, approximately one in every five Caucasians of European ancestry is totally deficient in this protein, due to homozygosity for a R577X polymorphism in the ACTN3 gene. This, together with the results of recent research on elite athletes, suggests that the "null" XX polymorphism might confer some advantage to endurance performance events. To test this hypothesis, we studied the frequency distribution of R577X genotypes in a group of 50 top-level male professional cyclists (26.9 +/- 0.4 yrs [mean +/- SEM]; VO2max: 73.5 +/- 0.8 ml center dot kg(-1 center dot)min(-1)). Their results were compared with those of a group of 52 Olympic-class male endurance runners (26.8 +/- 0.6 yrs; VO2max: 73.3 +/- 0.8 ml center dot kg(-1)center dot min(-1)) and 123 healthy, sedentary male controls. All subjects were Caucasian, and of European ancestry. No significant differences (p > 0.05) were found between groups: RR: 28.5%; RX: 53.6% and XX: 17.9% in controls; RR: 28.0%; RX: 46.0% and XX: 26.0% in cyclists; and RR: 25.0%; RX: 57.7%; XX: 17.3% in runners). No differences were found in indices of endurance performance (VO2peak or ventilatory thresholds) between athlete carriers of each R577X genotype. In summary, although the alpha-actinin-3 deficient XX genotype may be detrimental for sprint performance in humans, the R577X polymorphism of the ACTN3 gene does not appear to confer an advantage on the ability of male athletes to sustain extreme endurance performance.