Genetic variants associated with exercise performance in both moderately trained and highly trained individuals

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.

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Data availability

The datasets generated and analysed in this study will be provided by the corresponding author upon reasonable request.

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Acknowledgements

The authors would like to acknowledge Dr. Cassie Albury for assistance with the molecular methods used in this manuscript.

Funding

This research was chiefly supported by the Commonwealth Collaborative Research Network funding to Bond University CRN-AESS. Mr. Nicholas Harvey was supported by a Ph.D. stipend also provided by Bond University CRN-AESS. This research was also supported by infrastructure purchased with Australian Government EIF Super Science Funds as part of the Therapeutic Innovation Australia—Queensland Node project (LRG). Nir Eynon is supported by the National Health and Medical Research Council, Australia (NHMRC CDF# APP1140644).

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Correspondence to L. R. Griffiths.

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All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee (Gene SMART study: VU human research ethics committee: HRE13-233; QUT human research ethics committee: 1600000342; Hawaiian Ironman triathlon study: QUT Human Research Ethics Committee: 1300000499) and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

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Harvey, N.R., Voisin, S., Dunn, P.J. et al. Genetic variants associated with exercise performance in both moderately trained and highly trained individuals. Mol Genet Genomics 295, 515–523 (2020). https://doi.org/10.1007/s00438-019-01639-8

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Keywords

  • Genetics
  • Exercise
  • MassARRAY
  • Replication
  • Endurance