Abstract

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.

Highlights

  • Cardiorespiratory fitness (CRF) is positively associated with endurance exercise performance [1]and is a strong prognostic factor of morbidity and mortality from all causes and, from cardiovascular disease (CVD) [2,3]

  • The authors of this study found that those individuals whose genotype was associated with a high VO2peak value had a lower CVD risk, but they did not calculate the additive effect that the nine single nucleotide polymorphism (SNP) had on the interindividual variability of VO2peak

  • Of the initial 1047 individuals recruited, valid VO2peak measurements were obtained for 1009 individuals (566 women), and only these participants were included in the analyses

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Summary

Introduction

Is a strong prognostic factor of morbidity and mortality from all causes and, from cardiovascular disease (CVD) [2,3] While both physical activity (PA) and exercise training can modify CRF and are inversely associated with morbidity and mortality rates [4], CRF per se is a much stronger predictor of prognosis in CVD and metabolic disorders [5,6]. CRF can be assessed by directly measuring the peak oxygen uptake (VO2peak ) reached during a graded dynamic exercise test until exhaustion, involving large muscle masses (e.g., running or bicycling), or by indirectly estimating this variable from the peak workload achieved. VO2peak is characterized by a high interindividual variability even in people of the same sex, age and with the same level of PA and exercise training. The authors suggested that the genetic effect on VO2peak reached ~40%

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