Grenda Agata, Leońska-Duniec Agata, Kaczmarczyk Mariusz, Ficek Krzysztof, Król Paweł, Cięszczyk Paweł, Zmijewski Piotr
Department of Physical Education and Sport, West Pomeranian Technological University, Szczecin, Poland.
Faculty of Physical Culture and Health Promotion, University of Szczecin, Szczecin, Poland.
J Hum Kinet. 2014 Oct 10;42:127-36. doi: 10.2478/hukin-2014-0067. eCollection 2014 Sep 29.
We hypothesized that the ACE ID / ACTN3 R577X genotype combination was associated with sprint and endurance performance. Therefore, the purpose of the present study was to determine the interaction between both ACE ID and ACTN3 R577X polymorphisms and sprint and endurance performance in swimmers. Genomic DNA was extracted from oral epithelial cells using GenElute Mammalian Genomic DNA Miniprep Kit (Sigma, Germany). All samples were genotyped using a real-time poly- merase chain reaction. The ACE I/D and the ACTN3 R577X genotype frequencies met Hardy-Weinberg expectations in both swimmers and controls. When the two swimmer groups, long distance swimmers (LDS) and short distance swimmers (SDS), were compared with control subjects in a single test, a significant association was found only for the ACE polymorphism, but not for ACTN3. Additionally, four ACE/ACTN3 combined genotypes (ID/RX, ID/XX, II/RX and II/XX) were statistically significant for the LDS versus Control comparison, but none for the SDS versus Control comparison. The ACE I/D and the ACTN3 R577X polymorphisms did not show any association with sprint swimming, taken individually or in combination. In spite of numerous previous reports of associations with athletic status or sprint performance in other sports, the ACTN3 R577X polymorphism, in contrast to ACE I/D, was not significantly associated with elite swimming status when considered individually. However, the combined analysis of the two loci suggests that the co-occurrence of the ACE I and ACTN3 X alleles may be beneficial to swimmers who compete in long distance races.
我们假设血管紧张素转换酶（ACE）插入/缺失（I/D）多态性与α-辅肌动蛋白3（ACTN3）R577X基因型组合与短跑和耐力表现相关。因此，本研究的目的是确定ACE I/D和ACTN3 R577X多态性与游泳运动员短跑和耐力表现之间的相互作用。使用GenElute哺乳动物基因组DNA小量制备试剂盒（德国西格玛公司）从口腔上皮细胞中提取基因组DNA。所有样本均采用实时聚合酶链反应进行基因分型。ACE I/D和ACTN3 R577X基因型频率在游泳运动员和对照组中均符合哈迪-温伯格平衡。当将长距离游泳运动员（LDS）和短距离游泳运动员（SDS）这两组游泳运动员与对照组在单一测试中进行比较时，仅发现ACE多态性存在显著关联，而ACTN3多态性无显著关联。此外，对于LDS与对照组的比较，四种ACE/ACTN3组合基因型（ID/RX、ID/XX、II/RX和II/XX）具有统计学意义，但SDS与对照组的比较则无。单独或组合来看，ACE I/D和ACTN3 R577X多态性与短距离游泳均无关联。尽管之前有许多关于与其他运动项目的运动状态或短跑表现相关的报道，但与ACE I/D不同，单独考虑时ACTN3 R577X多态性与优秀游泳状态并无显著关联。然而，两个基因座的联合分析表明，ACE I和ACTN3 X等位基因的共同出现可能对参加长距离比赛的游泳运动员有益。
