Does the AMPD1 C34T Polymorphism Influence Physical Performance in Elite Athletes?

Martin, Daniel R. and Stebbings, Georgina K. and Heffernan, Shane M. and Erskine, Robert M. and Antrobus, Mark and Brazier, Jon and Lockey, Sarah and Jackson, Alex L. and Day, Stephen and Kilduff, Liam and Bennett, Mark and Raleigh, Stuart M. and Cullen, Tom and Collins, Malcolm and Pitsiladis, Yannis and Callus, Peter and Herbert, Adam J. and Williams, Alun G. (2026) Does the AMPD1 C34T Polymorphism Influence Physical Performance in Elite Athletes? Genes, 17 (8). p. 935. ISSN 2073-4425

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Abstract

Background/Objectives: Adenosine monophosphate deaminase deficiency has been implicated in impaired exercise capacity. We examined whether the AMPD1 C34T (rs17602729) genotype was associated with athlete status and performance in distance runners (DRs) and rugby union (RU) athletes. Methods: Participants included 621 elite male RU athletes, 666 elite/sub-elite male and female DRs, and 1029 male and female non-athletes (NA), all of European ancestry. Genotyping was performed using real-time PCR with TaqMan reagents. Genotype and allele frequencies were compared using χ2 tests, while performance data were analysed using Kruskal–Wallis H, Mann–Whitney U, one-way ANOVA, and t-tests, with Benjamini–Hochberg correction applied for multiple comparisons. Results: Genotype and allele frequencies did not differ between athletes and NA or between athlete groups. In all DRs, run times did not differ between genotypes, although participants with the CT genotype in the elite and elite male subgroups were up to 5% faster than CC and TT homozygotes. In RU, participants with the CC genotype played 13% longer per appearance than those with the CT genotype, while forwards and front five participants with the CC genotype played 13% and 26% longer per appearance than T-allele carriers, respectively. Front five T-allele carriers made 75% more clean breaks than the front five with the CC genotype despite playing for a shorter time, although this finding should be interpreted cautiously. Conclusions: In summary, while the AMPD1 C34T genotype was not associated with athlete status, the CC genotype was associated with greater RU playing time per appearance in forwards, and the CT genotype was associated with superior performance in elite DRs.

Item Type:	Article
Identification Number:	10.3390/genes17080935
Dates:	Date Event 7 August 2026 Accepted 11 August 2026 Published Online
Uncontrolled Keywords:	AMPD1, athletes, distance runners, rugby union
Subjects:	CAH03 - biological and sport sciences > CAH03-02 - sport and exercise sciences > CAH03-02-01 - sport and exercise sciences
Divisions:	Life and Health Sciences > Life and Sports Sciences
Depositing User:	Gemma Tonks
Date Deposited:	26 Aug 2026 08:34
Last Modified:	26 Aug 2026 08:34
URI:	https://www.open-access.bcu.ac.uk/id/eprint/17190

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