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

作者：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^*

来源：Medicine and Science in Sports and Exercise, 2013, 45(5): 892-900.

DOI：10.1249/MSS.0b013e31827c501f

• ACE/ACTN3 POLYMORPHISMS
• ELITE SWIMMER STATUS
• CASE-CONTROL ASSOCIATION STUDY
• CAUCASIANS
• EAST ASIANS

WANG, G., E. MIKAMI, L.-L. CHIU, A. DE PERINI, M. DEASON, N. FUKU, M. MIYACHI, K. KANEOKA, H. MURAKAMI, M. TANAKA, L.-L. HSIEH, S. S. HSIEH, D. CAPOROSSI, F. PIGOZZI, A. HILLEY, R. LEE, S. D. R. GALLOWAY, J. GULBIN, V. A. ROGOZKIN, I. I. AHMETOV, N. YANG, K. N. NORTH, S. PLOUTARHOS, H. E. MONTGOMERY, M. E. S. BAILEY, and Y. P. PITSILADIS. Association Analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers. Med. Sci. Sports Exerc., Vol. 45, No. 5, pp. 892-900, 2013. 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, %26lt;= 400 m, n = 130; long distance, 9400 m, n = 70) and 326 elite Japanese and Taiwanese swimmers (short distance, %26lt;= 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 %26quot;power/sprint%26quot; performance in other sports.

• 出版日期2013-5
• 单位长春大学; 西安交通大学