Gómez-Gallego F, Santiago C, González-Freire M, Muniesa C A, Fernández Del Valle M, Pérez M, Foster C, Lucia A
Biomedical Laboratory, Universidad Europea de Madrid, Madrid, Spain.
Int J Sports Med. 2009 Jan;30(1):66-72. doi: 10.1055/s-2008-1038677. Epub 2008 Jul 23.
We assessed the possible association between variants of the genes encoding for the angiotensin-converting enzyme ( ACE) and alpha-actinin-3 ( ACTN3) (both individually and combined) and several endurance phenotypic traits, e.g., peak power output (PPO), ventilatory (VT) and respiratory compensation threshold (RCT), among others, in professional road cyclists and sedentary controls (n = 46 each). We applied an ANCOVA test using the aforementioned phenotype traits as dependent variables, ACE and/or ACTN3 genotype as the fixed (independent) factor and age and body mass as covariates. We only found a significant genotype effect with no concomitant covariate effect for ACTN3, with cyclists who were not alpha-actinin-3 deficient (RR + RX genotypes) having higher PPO and VT values than their XX counterparts (mean [SEM]: 7.4 (0.1) vs. 7.1 (0.1) W/kg, p = 0.035; and 4.5 (0.1) vs. 4.3 (0.1) W/kg, p = 0.029, respectively). Cyclists with an "extreme" ACTN3 and ACE genotype combination, i.e., most strength/power oriented (DD + RR/RX), had higher RCT values than those with the "intermediate" combinations (II + RX/RR, p = 0.036; and DD + XX, p = .0004) but similar to those with the most endurance oriented genotype (II + XX). No significant differences (p > 0.05) were found in controls. In summary, in world-class cyclists, we only found an association between ACTN3 genotypes and VT and PPO, and between ACTN3/ACE genotype combinations and RCT.
我们评估了编码血管紧张素转换酶（ACE）和α-辅肌动蛋白-3（ACTN3）的基因变体（单独以及联合）与几种耐力表型特征之间可能存在的关联，这些表型特征包括峰值功率输出（PPO）、通气阈值（VT）和呼吸补偿阈值（RCT）等，研究对象为职业公路自行车运动员和久坐不动的对照组（每组n = 46）。我们进行了协方差分析（ANCOVA），将上述表型特征作为因变量，将ACE和/或ACTN3基因型作为固定（独立）因素，将年龄和体重作为协变量。我们仅发现ACTN3存在显著的基因型效应，且不存在伴随的协变量效应，即非α-辅肌动蛋白-3缺陷型（RR + RX基因型）的自行车运动员的PPO和VT值高于XX基因型的运动员（平均值[标准误]：分别为7.4（0.1）W/kg 对 7.1（0.1）W/kg，p = 0.035；以及4.5（0.1）W/kg 对 4.3（0.1）W/kg，p = 0.029）。具有“极端”ACTN3和ACE基因型组合的自行车运动员，即最倾向于力量/功率型（DD + RR/RX）的运动员，其RCT值高于具有“中间”组合的运动员（II + RX/RR，p = 0.036；以及DD + XX，p = 0.0004），但与最倾向于耐力型基因型（II + XX）的运动员相似。在对照组中未发现显著差异（p > 0.05）。总之，在世界级自行车运动员中，我们仅发现ACTN3基因型与VT和PPO之间存在关联，以及ACTN3/ACE基因型组合与RCT之间存在关联。
