No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes

Ioannis Papadimitriou ,Fleur Garton,Carla Maria Calò,Stephen H Day,Adam J Herbert,Ildus I Ahmetov,Shane M Heffernan ,Myosotis Massidda,Sarah Voisin,Georgina K Stebbings,Marek Sawczuk,Paweł Cięszczyk ,Irina V Astratenkova,Jacques Michaux ,Alun G Williams,Courtney Kipps,Robert M Erskine ,Charles R Pedlar ,Sarah J Lockey ,Agnieszka Maciejewska-Skrendo,Anastasia Kouvatsi,Klaus North ,Anastasiya M Druzhevskaya,Peter J Houweling,Nir Eynon

doi:10.1186/s12864-017-4412-0

Abstract

BackgroundStudies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. Aim: To examine the association between ACTN3 R577X and ACE I/D genotypes and best personal running times in a large homogeneous cohort of endurance runners.MethodsWe collected a total of 1064 personal best 1500, 3000, 5000 m and marathon running times of 698 male and female Caucasian endurance athletes from six countries (Australia, Greece, Italy, Poland, Russia and UK). Athletes were genotyped for ACTN3 R577X and ACE ID variants.ResultsThere was no association between ACTN3 R577X or ACE I/D genotype and running performance at any distance in men or women. Mean (SD) marathon times (in s) were for men: ACTN3 RR 9149 (593), RX 9221 (582), XX 9129 (582) p = 0.94; ACE DD 9182 (665), ID 9214 (549), II 9155 (492) p = 0.85; for women: ACTN3 RR 10796 (818), RX 10667 (695), XX 10675 (553) p = 0.36; ACE DD 10604 (561), ID 10766 (740), II 10771 (708) p = 0.21. Furthermore, there were no associations between these variants and running time for any distance in a sub-analysis of athletes with personal records within 20% of world records.ConclusionsThus, consistent with most case-control studies, this multi-cohort quantitative analysis demonstrates it is unlikely that ACTN3 XX genotype provides an advantage in competitive endurance running performance. For ACE II genotype, some prior studies show an association but others do not. Our data indicate it is also unlikely that ACE II genotype provides an advantage in endurance running.

Highlights

Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance
The aim of this study was to examine the association between the ACTN3 R577X and ACE I/D variants and personal best running times in 1500 m, 3000 m, 5000 m, 10,000 m and marathon in a large cohort of male and female Caucasian endurance runners
No association between ACTN3 R577X or ACE I/D genotypes and personal best times in the whole cohort In males and females alike and regardless of the chosen statistical analysis or genetic model, we found no association between either ACTN3 R577X or ACE I/D genotype and 1500 m, 3000 m, 5000 m, 10,000 m or marathon personal best times (Figs. 1 and 2, Tables 1 and 2)

Summary

Introduction

Studies investigating associations between ACTN3 R577X and ACE I/D genotypes and endurance athletic status have been limited by small sample sizes from mixed sport disciplines and lack quantitative measures of performance. A tendency for a higher proportion of elite athletes carrying the 577XX genotype was found in Australian athletes excelling in aerobic activities [6], showing some evidence for association of this genotype with endurance performance While this association was replicated in some cohorts of athletes [10, 13] other studies have shown no association between the ACTN3 R577X genotypes and endurance athletic status [7, 8]. A large study with Russian endurance athletes found that the frequency of the XX genotype was lower in endurance athletes than in controls [14], demonstrating the conflicting results between the association of this gene variant and endurance athletic performance In line with this finding, an analysis comparing 50 elite male endurance cyclists and 52 Olympic-level endurance runners with 123 sedentary male controls [15] found no difference in genotype frequencies between controls and either of the two athlete groups. In a different human sporting context, namely the team sport of rugby union, the R allele has recently been associated with success in playing positions reliant on sprinting speed, while the X allele was associated with playing demands allowing relatively short recovery times [17]

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