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

Guan Wang, Eri Mikami, Li Ling Chiu, Alessandra De Perini, Michael Deason, Noriyuki Fuku, Motohiko Miyachi, Koji Kaneoka, Haruka Murakami, Masashi Tanaka, Ling Ling Hsieh, Sandy S. Hsieh, Daniela Caporossi, Fabio Pigozzi, Alan Hilley, Rob Lee, Stuart D R Galloway, Jason Gulbin, Viktor A. Rogozkin, Ildus I. Ahmetov & 6 others Nan Yang, Kathryn N. North, Saraslanidis Ploutarhos, Hugh E. Montgomery, Mark E S Bailey, Yannis P. Pitsiladis

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Abstract

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.

Original languageEnglish
Pages (from-to)892-900
Number of pages9
JournalMedicine and Science in Sports and Exercise
Volume45
Issue number5
DOIs
Publication statusPublished - 2013 May

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Actinin
Peptidyl-Dipeptidase A
Alleles
Sports
Logistic Models
Population
Genes

ASJC Scopus subject areas

  • Orthopedics and Sports Medicine
  • Physical Therapy, Sports Therapy and Rehabilitation

Cite this

Wang, G., Mikami, E., Chiu, L. L., De Perini, A., Deason, M., Fuku, N., ... Pitsiladis, Y. P. (2013). Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Medicine and Science in Sports and Exercise, 45(5), 892-900. https://doi.org/10.1249/MSS.0b013e31827c501f

Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. / 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, Rob; Galloway, Stuart D R; Gulbin, Jason; Rogozkin, Viktor A.; Ahmetov, Ildus I.; Yang, Nan; North, Kathryn N.; Ploutarhos, Saraslanidis; Montgomery, Hugh E.; Bailey, Mark E S; Pitsiladis, Yannis P.

In: Medicine and Science in Sports and Exercise, Vol. 45, No. 5, 05.2013, p. 892-900.

Research output: Contribution to journalArticle

Wang, G, Mikami, E, Chiu, LL, De Perini, A, Deason, M, Fuku, N, Miyachi, M, Kaneoka, K, Murakami, H, Tanaka, M, Hsieh, LL, Hsieh, SS, 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 & Pitsiladis, YP 2013, 'Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers', Medicine and Science in Sports and Exercise, vol. 45, no. 5, pp. 892-900. https://doi.org/10.1249/MSS.0b013e31827c501f
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, Rob ; Galloway, Stuart D R ; Gulbin, Jason ; Rogozkin, Viktor A. ; Ahmetov, Ildus I. ; Yang, Nan ; North, Kathryn N. ; Ploutarhos, Saraslanidis ; Montgomery, Hugh E. ; Bailey, Mark E S ; Pitsiladis, Yannis P. / Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. In: Medicine and Science in Sports and Exercise. 2013 ; Vol. 45, No. 5. pp. 892-900.
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abstract = "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.",
author = "Guan Wang and Eri Mikami and Chiu, {Li Ling} and {De Perini}, Alessandra and Michael Deason and Noriyuki Fuku and Motohiko Miyachi and Koji Kaneoka and Haruka Murakami and Masashi Tanaka and Hsieh, {Ling Ling} and Hsieh, {Sandy S.} and Daniela Caporossi and Fabio Pigozzi and Alan Hilley and Rob Lee and Galloway, {Stuart D R} and Jason Gulbin and Rogozkin, {Viktor A.} and Ahmetov, {Ildus I.} and Nan Yang and North, {Kathryn N.} and Saraslanidis Ploutarhos and Montgomery, {Hugh E.} and Bailey, {Mark E S} and Pitsiladis, {Yannis P.}",
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T1 - Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers

AU - Wang, Guan

AU - Mikami, Eri

AU - Chiu, Li Ling

AU - De Perini, Alessandra

AU - Deason, Michael

AU - Fuku, Noriyuki

AU - Miyachi, Motohiko

AU - Kaneoka, Koji

AU - Murakami, Haruka

AU - Tanaka, Masashi

AU - Hsieh, Ling Ling

AU - Hsieh, Sandy S.

AU - Caporossi, Daniela

AU - Pigozzi, Fabio

AU - Hilley, Alan

AU - Lee, Rob

AU - Galloway, Stuart D R

AU - Gulbin, Jason

AU - Rogozkin, Viktor A.

AU - Ahmetov, Ildus I.

AU - Yang, Nan

AU - North, Kathryn N.

AU - Ploutarhos, Saraslanidis

AU - Montgomery, Hugh E.

AU - Bailey, Mark E S

AU - Pitsiladis, Yannis P.

PY - 2013/5

Y1 - 2013/5

N2 - 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.

AB - 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.

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