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Appears in Collections:Faculty of Health Sciences and Sport Journal Articles
Peer Review Status: Refereed
Title: Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers
Author(s): Wang, Guan
Mikami, Eri
Chiu, Li-Ling
de Perini, Alessandra
Deason, Michael
Fuku, Noriyuki
Miyachi, Motohiko
Kaneoka, Koji
Murakami, Haruka
Tanaka, Masashi
Hsieh, Ling-Ling
Hsieh, Sandy S
Caporossi, Daniela
Pigozzi, Fabio
Hilley, Alan
Lee, Robert
Galloway, S D
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Keywords: ACE/ACTN3 polymorphisms
elite swimmer status
case-control association study
East Asians
Issue Date: May-2013
Date Deposited: 6-Mar-2013
Citation: Wang G, Mikami E, Chiu L, de Perini A, Deason M, Fuku N, Miyachi M, Kaneoka K, Murakami H, Tanaka M, Hsieh L, Hsieh SS, Caporossi D, Pigozzi F, Hilley A, Lee R & Galloway SD (2013) Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Medicine and Science in Sports and Exercise, 45 (5), pp. 892-900.
Abstract: PURPOSE: Polymorphic variation in the angiotensin-converting enzyme (ACE) and alpha-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, SMD ≤ 400 m, n = 130; long distance, LD greater than 400 m, n = 70) and 326 elite Japanese and Taiwanese swimmers (short distance, SD ≤ 100 m, n = 166; middle distance, MD: 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 SMD 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 SD 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.
DOI Link: 10.1249/MSS.0b013e31827c501f
Rights: This item has been embargoed for a period. During the embargo please use the Request a Copy feature at the foot of the Repository record to request a copy directly from the author. You can only request a copy if you wish to use this work for your own research or private study. Publisher policy allows this work to be made available in this repository. Published in Medicine & Science in Sports & Exercise Issue: Volume 45(5), May 2013, p 892–900 Copyright: ©2013The American College of Sports Medicine
Notes: Additional co-authors: Jason Gulbin, Viktor A. Rogozkin, Ildus I. Ahmetov, Nan Yang, Kathryn N. North, Saraslanidis Ploutarhos, Hugh E. Montgomery, Mark E.S. Bailey, and Yannis P. Pitsiladis

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