Cardiovascular Rehabilitation Unit, Department of Rehabilitation Sciences, Katholieke Universiteit Leuven, Belgium.
BMC Genet. 2011 Oct 3;12:84. doi: 10.1186/1471-2156-12-84.
It is widely accepted that genetic variability might explain a large part of the observed heterogeneity in aerobic capacity and its response to training. Significant associations between polymorphisms of different genes with muscular strength, anaerobic phenotypes and body composition have been reported. Muscular endophenotypes are positively correlated with aerobic capacity, therefore, we tested the association of polymorphisms in twelve muscular related genes on aerobic capacity and its response to endurance training.
935 Coronary artery disease patients (CAD) who performed an incremental exercise test until exhaustion at baseline and after three months of training were included. Polymorphisms of the genes were detected using the invader assay. Genotype-phenotype association analyses were performed using ANCOVA. Different models for a genetic predisposition score (GPS) were constructed based on literature and own data and were related to baseline and response VO(2) scores.
Carriers of the minor allele in the R23K polymorphism of the glucocorticoid receptor gene (GR) and the ciliary neurotrophic factor gene (CNTF) had a significantly higher increase in peakVO(2) after training (p < 0.05). Carriers of the minor allele (C34T) in the adenosine monophosphate deaminase (AMPD1) gene had a significantly lower relative increase (p < 0.05) in peakVO(2). GPS of data driven models were significantly associated with the increase in peakVO(2) after training.
In CAD patients, suggestive associations were found in the GR, CNTF and the AMPD1 gene with an improved change in aerobic capacity after three months of training. Additionally data driven models with a genetic predisposition score (GPS) showed a significant predictive value for the increase in peakVO(2).
遗传变异性可能解释有氧能力及其对训练的反应的大部分观察到的异质性，这一观点已被广泛接受。不同基因的多态性与肌肉力量、无氧表型和身体成分之间存在显著关联的报道。肌肉内表型与有氧能力呈正相关，因此，我们测试了 12 个与肌肉相关的基因中的多态性与有氧能力及其对耐力训练的反应之间的关联。
本研究纳入了 935 名冠心病患者（CAD），这些患者在基线和训练三个月后进行了递增运动测试直至力竭。使用入侵检测法检测基因多态性。采用协方差分析（ANCOVA）进行基因型-表型关联分析。根据文献和自身数据构建了不同的遗传倾向评分（GPS）模型，并与基线和反应 VO2 评分相关。
糖皮质激素受体（GR）基因 R23K 多态性和睫状神经营养因子（CNTF）基因的小等位基因携带者在训练后峰值 VO2 增加显著（p < 0.05）。腺苷单磷酸脱氨酶（AMPD1）基因的 C34T 小等位基因携带者在峰值 VO2 的相对增加量显著降低（p < 0.05）。数据驱动模型的 GPS 与训练后峰值 VO2 的增加显著相关。
在 CAD 患者中，GR、CNTF 和 AMPD1 基因与三个月训练后有氧能力的改善变化之间存在提示性关联。此外，具有遗传倾向评分（GPS）的数据驱动模型显示出对峰值 VO2 增加的显著预测价值。
