Abstract

Adaptation to exercise training is a complex trait that may be influenced by genetic variants. We identified 36 single nucleotide polymorphisms (SNPs) that had been previously associated with endurance or strength performance, exercise-related phenotypes or exercise intolerant disorders. A MassARRAY multiplex genotyping assay was designed to identify associations with these SNPs against collected endurance fitness phenotype parameters obtained from two exercise cohorts (Gene SMART study; n = 58 and Hawaiian Ironman Triathlon 2008; n = 115). These parameters included peak power output (PP), a time trial (TT), lactate threshold (LT), maximal oxygen uptake (VO₂ max) in recreationally active individuals and a triathlon time-to-completion (Hawaiian Ironman Triathlon cohort only). A nominal significance threshold of α < 0.05 was used to identify 17 variants (11 in the Gene SMART population and six in the Hawaiian Ironman Triathlon cohort) which were significantly associated with performance gains in highly trained individuals. The variant rs1474347 located in Interleukin 6 (IL6) was the only variant with a false discovery rate < 0.05 and was found to be associated with gains in VO₂ max (additional 4.016 mL/(kg min) for each G allele inherited) after training in the Gene SMART cohort. In summary, this study found further evidence to suggest that genetic variance can influence training response in a moderately trained cohort and provides an example of the potential application of genomic research in the assessment of exercise trait response.

中文翻译：

---

中度训练和高度训练的个体与运动表现相关的遗传变异

摘要

适应运动训练是一个复杂的特征，可能会受到遗传变异的影响。我们确定了36个单核苷酸多态性（SNPs），这些多态性以前与耐力或力量表现，运动相关的表型或运动不耐症有关。设计了MassARRAY多重基因分型测定法，以鉴定与这些SNP的关联，以对抗从两个运动队列中获得的耐力健身表型参数（基因SMART研究；n  = 58； Hawaiian Ironman Triathlon 2008；n  = 115）。这些参数包括峰值功率输出（PP），时间试验（TT），乳酸阈值（LT），最大摄氧量（VO ₂最多参加娱乐活动的人和铁人三项比赛的完成时间（仅适用于夏威夷铁人三项全能队列）。使用α  <0.05的名义显着性阈值来识别17个变异（在基因SMART人群中为11个，在夏威夷铁人三项全能运动员队列中为6个），这些变异与训练有素的个体的性能提高显着相关。位于白细胞介素6（IL6）中的变体rs1474347是唯一的假发现率<0.05的变体，并且被发现与VO _2的获得有关在基因SMART队列中训练后的最大（每个遗传的G等位基因额外的4.016 mL /（kg最小）。总而言之，这项研究发现了进一步的证据，表明遗传变异可以影响受过中等训练的队列中的训练反应，并提供了基因组研究在评估运动性状反应中潜在应用的实例。