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

Wang, G, Mikami, E, Chiu, LL, De Perini, A, Deason, M, Fuku, N, Miyachi, M, Kaneoka, K, Murakami, H, Tanaka, M, Hsieh, LL, Hsieh, S, Caporossi, D, Pigozzi, F, Hilley, A, Lee, R, Galloway, SDR, Gulbin, J, Rogozkin, VA, Ahmetov, II , Yang, N, North, KN, Ploutarhos, S, Montgomery, HE, Bailey, MES and Pitsiladis, YP (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. ISSN 0195-9131

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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.

Item Type: Article
Additional Information: This is a pre-copyedited, author-produced version of an article accepted for publication in Medicine and Science in Sports and Exercise. The published version of record 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. Association Analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Medicine & Science in Sports & Exercise 45(5):p 892-900, May 2013. | DOI: 10.1249/MSS.0b013e31827c501f and is available online at: http://doi.org/10.1249/mss.0b013e31827c501f
Uncontrolled Keywords: Science & Technology; Life Sciences & Biomedicine; Sport Sciences; ACE/ACTN3 POLYMORPHISMS; ELITE SWIMMER STATUS; CASE-CONTROL ASSOCIATION STUDY; CAUCASIANS; EAST ASIANS; ANGIOTENSIN-CONVERTING ENZYME; BLOOD LEAD LEVELS; R577X POLYMORPHISM; I/D POLYMORPHISM; INSERTION/DELETION POLYMORPHISM; ATHLETIC PERFORMANCE; GENE POLYMORPHISM; D-ALLELE; GENOTYPE; ENDURANCE; Humans; Peptidyl-Dipeptidase A; Actinin; Physical Endurance; Swimming; Genotype; Polymorphism, Genetic; Female; Male; INDEL Mutation; Genome-Wide Association Study; Genotyping Techniques; Asian People; White People; Asia, Eastern; Actinin; Asian People; Asia, Eastern; Female; Genome-Wide Association Study; Genotype; Genotyping Techniques; Humans; INDEL Mutation; Male; Peptidyl-Dipeptidase A; Physical Endurance; Polymorphism, Genetic; Swimming; White People; 1106 Human Movement and Sports Sciences; 1116 Medical Physiology; 1117 Public Health and Health Services; Sport Sciences
Subjects: Q Science > QH Natural history > QH426 Genetics
R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions: Sport & Exercise Sciences
Publisher: Lippincott, Williams & Wilkins
SWORD Depositor: A Symplectic
Date Deposited: 02 May 2024 12:46
Last Modified: 02 May 2024 12:46
DOI or ID number: 10.1249/MSS.0b013e31827c501f
URI: https://researchonline.ljmu.ac.uk/id/eprint/23074
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