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Association Analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers

WANG, GUAN1; MIKAMI, ERI2,3; CHIU, LI-LING4; DE PERINI, ALESSANDRA5; DEASON, MICHAEL1; FUKU, NORIYUKI6; MIYACHI, MOTOHIKO7; KANEOKA, KOJI8; MURAKAMI, HARUKA7; TANAKA, MASASHI6; HSIEH, LING-LING9; HSIEH, SANDY S.10; CAPOROSSI, DANIELA5; PIGOZZI, FABIO5; HILLEY, ALAN11; LEE, ROB1; GALLOWAY, STUART D. R.12; GULBIN, JASON13; ROGOZKIN, VIKTOR A.14; AHMETOV, ILDUS I.14,15; YANG, NAN16; NORTH, KATHRYN N.17,18; PLOUTARHOS, SARASLANIDIS19; MONTGOMERY, HUGH E.20; BAILEY, MARK E. S.21; PITSILADIS, YANNIS P.1

Medicine & Science in Sports & Exercise: May 2013 - Volume 45 - Issue 5 - p 892–900
doi: 10.1249/MSS.0b013e31827c501f
BASIC SCIENCES: Special Report

Purpose: Polymorphic variation in the angiotensin-converting enzyme (ACE) and α-actinin-3 (ACTN3) genes has been reported to be associated with endurance and/or power-related human performance. Our aim was to investigate whether polymorphisms in ACE and ACTN3 are associated with elite swimmer status in Caucasian and East Asian populations.

Methods: ACE I/D and ACTN3 R577X genotyping was carried out for 200 elite Caucasian swimmers from European, Commonwealth, Russian, and American cohorts (short and middle distance, ≤400 m, n = 130; long distance, >400 m, n = 70) and 326 elite Japanese and Taiwanese swimmers (short distance, ≤100 m, n = 166; middle distance, 200–400 m, n = 160). Genetic associations were evaluated by logistic regression and other tests accommodating multiple testing adjustment.

Results: ACE I/D was associated with swimmer status in Caucasians, with the D allele being overrepresented in short-and-middle-distance swimmers under both additive and I-allele-dominant models (permutation test P = 0.003 and P = 0.0005, respectively). ACE I/D was also associated with swimmer status in East Asians. In this group, however, the I allele was overrepresented in the short-distance swimmer group (permutation test P = 0.041 and P = 0.0098 under the additive and the D-allele-dominant models, respectively). ACTN3 R577X was not significantly associated with swimmer status in either Caucasians or East Asians.

Conclusions: ACE I/D associations were observed in these elite swimmer cohorts, with different risk alleles responsible for the associations in swimmers of different ethnicities. The functional ACTN3 R577X polymorphism did not show any significant association with elite swimmer status, despite numerous previous reports of associations with “power/sprint” performance in other sports.

1Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UNITED KINGDOM; 2Graduate School of Sport Sciences, Waseda University, Saitama, JAPAN; 3Japan Society for the Promotion of Science, Tokyo, JAPAN; 4Department of Nutrition and Health Sciences, Chang Gung University of Science and Technology, Tao-Yuan, TAIWAN; 5Department of Health Sciences, University of Rome “Foro Italico”–IUSM, Rome, ITALY; 6Department of Genomics for Longevity and Health, Tokyo Metropolitan Institute of Gerontology, Tokyo, JAPAN; 7Department of Health Promotion and Exercise, National Institute of Health Nutrition, Tokyo, JAPAN; 8Faculty of Sport Sciences, Waseda University, Saitama, JAPAN; 9Department of Public Health, Chang Gung University, Tao-Yuan, TAIWAN; 10Graduate Institute of Exercise and Sport Science, National Taiwan Normal University, Taipei, TAIWAN; 11School of Medicine, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UNITED KINGDOM; 12School of Sport, University of Stirling, Stirling, UNITED KINGDOM; 13Strategy and Innovation, Australian Institute of Sport, Canberra, AUSTRALIA; 14Sports Genetics Laboratory, St. Petersburg Research Institute of Physical Culture, St. Petersburg, RUSSIAN FEDERATION; 15Sport Technology Education Research Laboratory, Volga Region State Academy of Physical Culture, Sport and Tourism, Kazan, RUSSIAN FEDERATION; 16Suzhou Academy, Xi’An Jiaotong University, Xi’An, CHINA; 17The Children’s Hospital at Westmead, Sydney, AUSTRALIA; 18Sydney Medical School, University of Sydney, Sydney, AUSTRALIA; 19Department of Physical Education and Sport Sciences, Aristotle University of Thessaloniki, Thessaloniki, GREECE; 20The UCL Institute for Human Health and Performance, University College London, London, UNITED KINGDOM; and 21School of Life Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UNITED KINGDOM

Address for correspondence: Yannis P. Pitsiladis, Ph.D., Institute of Cardiovascular and Medical Sciences, College of Medicine, Veterinary and Life Sciences University of Glasgow, Glasgow, G12 8QQ, United Kingdom; E-mail: yannis.pitsiladis@glasgow.ac.uk.

Submitted for publication July 2012.

Accepted for publication October 2012.

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©2013The American College of Sports Medicine