Genetic Polymorphisms Related to VO2max Adaptation Are Associated With Elite Rugby Union Status and Competitive Marathon Performance

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Elliott C.R. Hall
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Sandro S. Almeida
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Shane M. Heffernan
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Sarah J. Lockey
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Adam J. Herbert
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Peter Callus
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Stephen H. Day
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Charles R. Pedlar
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Courtney Kipps
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Malcolm Collins
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Yannis P. Pitsiladis
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Mark A. Bennett
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Liam P. Kilduff
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Georgina K. Stebbings
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Robert M. Erskine
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Alun G. Williams
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DOI:
https://doi.org/10.1123/ijspp.2020-0856
Keywords:
genomics; exercise; heritability; endurance
First Published Online:
04 Jun 2021
In Print:
Volume 16: Issue 12
Page Range:
1858–1864
Restricted access

Purpose: Genetic polymorphisms have been associated with the adaptation to training in maximal oxygen uptake (V˙O2max). However, the genotype distribution of selected polymorphisms in athletic cohorts is unknown, with their influence on performance characteristics also undetermined. This study investigated whether the genotype distributions of 3 polymorphisms previously associated with V˙O2max training adaptation are associated with elite athlete status and performance characteristics in runners and rugby athletes, competitors for whom aerobic metabolism is important. Methods: Genomic DNA was collected from 732 men including 165 long-distance runners, 212 elite rugby union athletes, and 355 nonathletes. Genotype and allele frequencies of PRDM1 rs10499043 C/T, GRIN3A rs1535628 G/A, and KCNH8 rs4973706 T/C were compared between athletes and nonathletes. Personal-best marathon times in runners, as well as in-game performance variables and playing position, of rugby athletes were analyzed according to genotype. Results: Runners with PRDM1 T alleles recorded marathon times ∼3 minutes faster than CC homozygotes (02:27:55 [00:07:32] h vs 02:31:03 [00:08:24] h, P = .023). Rugby athletes had 1.57 times greater odds of possessing the KCNH8 TT genotype than nonathletes (65.5% vs 54.7%, χ2 = 6.494, P = .013). No other associations were identified. Conclusions: This study is the first to demonstrate that polymorphisms previously associated with V˙O2max training adaptations in nonathletes are also associated with marathon performance (PRDM1) and elite rugby union status (KCNH8). The genotypes and alleles previously associated with superior endurance-training adaptation appear to be advantageous in long-distance running and achieving elite status in rugby union.

Hall, Callus, Stebbings, and Williams are with the Sports Genomics Laboratory, Dept of Sport and Exercise Sciences, Manchester Metropolitan University, Manchester, United Kingdom. Almeida is with the Hospital Israelita Albert Einstein, São Paulo, Brazil. Heffernan, Bennett, and Kilduff are with the Applied Sports, Technology, Exercise and Medicine Research Centre (A-STEM), College of Engineering, Swansea University, Swansea, United Kingdom. Lockey is with the Faculty of Health, Education, Medicine and Social Care, Anglia Ruskin University, Chelmsford, United Kingdom. Herbert is with the School of Health Sciences, Birmingham City University, Birmingham, United Kingdom. Day is with the School of Medicine and Clinical Practice, University of Wolverhampton, Wolverhampton, United Kingdom. Pedlar is with the Faculty of Sport, Health and Applied Science, St Mary’s University, Twickenham, United Kingdom. Pedlar, Kipps, Erskine, and Williams are with the Inst of Sport, Exercise and Health, University College London, London, United Kingdom. Collins is with the Div of Exercise Sciences and Sports Medicine, Dept of Human Biology, University of Cape Town (UCT), Cape Town, South Africa. Pitsiladis is with the Collaborating Centre of Sports Medicine, University of Brighton, Eastbourne, United Kingdom. Erskine is with the School of Sport and Exercise Sciences, Liverpool John Moores University, Liverpool, United Kingdom.

Hall (elliotthall@live.co.uk) is corresponding author.
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