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

Papadimitriou, Ioannis D and Lockey, Sarah J and Voisin, Sarah and Herbert, Adam J. and Garton, Fleur and Houweling, Peter J and Cieszczyk, Pawel and Maciejewska-Skrendo, Agnieszka and Sawczuk, Marek and Massidda, Myosotis and Calò, Carla Maria and Astratenkova, Irina V and Kouvatsi, Anastasia and Druzhevskaya, Anastasiya M and Jacques, Macsue and Ahmetov, Ildus I and Stebbings, Georgina K and Heffernan, Shane and Day, Stephen H and Erskine, Robert and Pedlar, Charles and Kipps, Courtney and North, Kathryn N and Williams, Alun G and Eynon, Nir (2018) No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC genomics, 19 (1). p. 13. ISSN 1471-2164


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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.


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.


We 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.


There 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.


Thus, 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.

Item Type: Article
Date: 3 January 2018
Subjects: B100 Anatomy, Physiology and Pathology
C100 Biology
C400 Genetics
C600 Sports Science
C700 Molecular Biology, Biophysics and Biochemistry
Divisions: Faculty of Health, Education and Life Sciences > Centre for Social Care, Health and Related Research (C-SHARR) > Health Sciences
Depositing User: Adam Herbert
Date Deposited: 12 Mar 2019 13:50
Last Modified: 05 Oct 2020 08:26

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