Cardiorespiratory fitness, as assessed through peak oxygen uptake (VO2peak), is a powerful health indicator. We aimed to evaluate the influence of several candidate causal genetic variants on VO2peak level in untrained Han Chinese people. A total of 1009 participants (566 women; age [mean ± SD] 40 ± 14 years, VO2peak 29.9 ± 7.1 mL/kg/min) performed a maximal incremental cycling test for VO2peak determination. Genomic DNA was extracted from peripheral whole blood, and genotyping analysis was performed on 125 gene variants. Using age, sex, and body mass as covariates, and setting a stringent threshold p-value of 0.0004, only one single nucleotide polymorphism (SNP), located in the gene encoding angiotensin-converting enzyme (rs4295), was associated with VO2peak (β = 0.87; p < 2.9 × 10−4). Stepwise multiple regression analysis identified a panel of three SNPs (rs4295 = 1.1%, angiotensin II receptor type 1 rs275652 = 0.6%, and myostatin rs7570532 = 0.5%) that together accounted for 2.2% (p = 0.0007) of the interindividual variance in VO2peak. Participants carrying six ‘favorable’ alleles had a higher VO2peak (32.3 ± 8.1 mL/kg/min) than those carrying only one favorable allele (24.6 ± 5.2 mL/kg/min, p < 0.0001). In summary, VO2peak at the pre-trained state is partly influenced by several polymorphic variations in candidate genes, but they represent a minor portion of the variance.

中文翻译：

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心肺健康的个体差异：汉族候选基因研究

通过峰值摄氧量 (VO2peak) 评估的心肺健康状况是一项强大的健康指标。我们的目的是评估几种候选致病基因变异对未经训练的汉族人群摄氧量峰值水平的影响。共有 1009 名参与者（566 名女性；年龄 [平均值 ± 标准差] 40 ± 14 岁，VO2peak 29.9 ± 7.1 mL/kg/min）进行了最大增量循环测试，以确定 VO2peak。从外周全血中提取基因组DNA，并对125个基因变异进行基因分型分析。使用年龄、性别和体重作为协变量，并设置严格的阈值 p 值 0.0004，只有位于编码血管紧张素转换酶 (rs4295) 的基因中的一个单核苷酸多态性 (SNP) 与 VO2peak (β) 相关。 = 0.87；p < 2.9 × 10−4)。逐步多元回归分析确定了一组三个 SNP（rs4295 = 1.1%、血管紧张素 II 受体 1 型 rs275652 = 0.6% 和肌肉生长抑制素 rs7570532 = 0.5%），它们合计占 VO2peak 个体间方差的 2.2% (p = 0.0007) 。携带六个“有利”等位基因的参与者的摄氧量峰值（32.3 ± 8.1 mL/kg/min）高于仅携带一个有利等位基因的参与者（24.6 ± 5.2 mL/kg/min，p < 0.0001）。总之，预训练状态下的 VO2peak 部分受到候选基因中多个多态性变异的影响，但它们只代表了方差的一小部分。