ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.
ACTN3 R577X and ACE I/D gene variants influence performance in elite sprinters: a multi-cohort study.
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ACTN3 R577X和ACE I/D基因变体会影响精英短跑运动员的性能：一项多方研究。
DOI：
10.1186/s12864-016-2462-3
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发表时间：
2016-04-13
期刊：
影响因子：
4.4
通讯作者：
Eynon N
中科院分区：
文献类型：
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作者：
Papadimitriou ID;Lucia A;Pitsiladis YP;Pushkarev VP;Dyatlov DA;Orekhov EF;Artioli GG;Guilherme JP;Lancha AH Jr;Ginevičienė V;Cieszczyk P;Maciejewska-Karlowska A;Sawczuk M;Muniesa CA;Kouvatsi A;Massidda M;Calò CM;Garton F;Houweling PJ;Wang G;Austin K;Druzhevskaya AM;Astratenkova IV;Ahmetov II;Bishop DJ;North KN;Eynon N
迄今为止，调查 ACTN3 R577X 和 ACE I/D 基因变异与精英短跑/爆发力表现之间关联的研究仅限于来自混合运动项目的小群体，没有对表现进行定量测量。目的：研究这些变异与精英运动员冲刺时间之间的关联。我们收集了来自 10 个不同国家的 346 名精英短跑运动员中总共 555 名最佳个人 100 米、200 米和 400 米成绩。对短跑运动员进行了 ACTN3 R577X 和 ACE ID 变体的基因分型。平均而言，具有 ACTN3 577RR 或 ACE DD 基因型的男性白人短跑运动员的最佳 200 米冲刺时间比其 577XX 更快（21.19 ± 0.53 秒 vs. 21.86 ± 0.54 秒，p = 0.016）和 ACE II （21.33 ± 0.56 与 21.93 ± 0.67 秒，p = 0.004）对应且只有一种情况 ACE II 病例（没有 ACTN3 577XX 病例）的 200 米成绩比 2012 年伦敦奥运会预选赛更快（对比 12 名具有 577RR 或 577RX 基因型的合格短跑运动员）。具有 ACE DD 基因型的白人短跑运动员的最佳 400 米冲刺时间比 ACE II 同行更快（46.94 ± 1.19 秒 vs. 48.50± 1.07 秒，p = 0.003）。使用遗传模型，我们发现 ACTN3 577R 等位基因和 ACE D 等位基因显性模型分别占冲刺时间方差的 0.92% 和 1.48%。尽管冲刺成绩依赖于许多基因变异和环境，但 ACE 和 ACTN3 解释的冲刺时间百分比差异在精英水平上相当大，并且可能是世界纪录与仅进入决赛之间的差异。本文的在线版本 (doi:10.1186/s12864-016-2462-3) 包含补充材料，可供授权用户使用。
To date, studies investigating the association between ACTN3 R577X and ACE I/D gene variants and elite sprint/power performance have been limited by small cohorts from mixed sport disciplines, without quantitative measures of performance. Aim: To examine the association between these variants and sprint time in elite athletes. We collected a total of 555 best personal 100-, 200-, and 400-m times of 346 elite sprinters in a large cohort of elite Caucasian or African origin sprinters from 10 different countries. Sprinters were genotyped for ACTN3 R577X and ACE ID variants. On average, male Caucasian sprinters with the ACTN3 577RR or the ACE DD genotype had faster best 200-m sprint time than their 577XX (21.19 ± 0.53 s vs. 21.86 ± 0.54 s, p = 0.016) and ACE II (21.33 ± 0.56 vs. 21.93 ± 0.67 sec, p = 0.004) counterparts and only one case of ACE II, and no cases of ACTN3 577XX, had a faster 200-m time than the 2012 London Olympics qualifying (vs. 12 qualified sprinters with 577RR or 577RX genotype). Caucasian sprinters with the ACE DD genotype had faster best 400-m sprint time than their ACE II counterparts (46.94 ± 1.19 s vs. 48.50 ± 1.07 s, p = 0.003). Using genetic models we found that the ACTN3 577R allele and ACE D allele dominant model account for 0.92 % and 1.48 % of sprint time variance, respectively. Despite sprint performance relying on many gene variants and environment, the % sprint time variance explained by ACE and ACTN3 is substantial at the elite level and might be the difference between a world record and only making the final. The online version of this article (doi:10.1186/s12864-016-2462-3) contains supplementary material, which is available to authorized users.