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

被引：74

作者：

Wang, Guan ^{[1
]}

Mikami, Eri ^{[2
,3
]}

Chiu, Li-Ling ^{[4
]}

De Perini, Alessandra ^{[5
]}

Deason, Michael ^{[1
]}

Fuku, Noriyuki ^{[6
]}

Miyachi, Motohiko ^{[7
]}

Kaneoka, Koji ^{[8
]}

Murakami, Haruka ^{[7
]}

Tanaka, Masashi ^{[6
]}

Hsieh, Ling-Ling ^{[9
]}

Hsieh, Sandy S. ^{[10
]}

Caporossi, Daniela ^{[5
]}

Pigozzi, Fabio ^{[5
]}

Hilley, Alan ^{[11
]}

Lee, Rob ^{[1
]}

Galloway, Stuart D. R. ^{[12
]}

Gulbin, Jason ^{[13
]}

Rogozkin, Viktor A. ^{[14
]}

Ahmetov, Ildus I. ^{[14
,15
]}

Yang, Nan ^{[16
]}

North, Kathryn N. ^{[17
,18
]}

Ploutarhos, Saraslanidis ^{[19
]}

Montgomery, Hugh E. ^{[20
]}

Bailey, Mark E. S. ^{[21
]}

Pitsiladis, Yannis P. ^{[1
]}

机构：

[1] Univ Glasgow, Coll Med Vet & Life Sci, Inst Cardiovasc & Med Sci, Glasgow G12 8QQ, Lanark, Scotland

[2] Waseda Univ, Grad Sch Sport Sci, Saitama, Japan

[3] Japan Soc Promot Sci, Tokyo, Japan

[4] Chang Gung Univ Sci & Technol, Dept Nutr & Hlth Sci, Tao Yuan, Taiwan

[5] Univ Rome Foro Ital IUSM, Dept Hlth Sci, Rome, Italy

[6] Tokyo Metropolitan Inst Gerontol, Dept Genom Longev & Hlth, Tokyo, Japan

[7] Natl Inst Hlth Nutr, Dept Hlth Promot & Exercise, Tokyo, Japan

[8] Waseda Univ, Fac Sport Sci, Saitama, Japan

[9] Chang Gung Univ, Dept Publ Hlth, Tao Yuan, Taiwan

[10] Natl Taiwan Normal Univ, Grad Inst Exercise & Sport Sci, Taipei, Taiwan

[11] Univ Glasgow, Coll Med Vet & Life Sci, Sch Med, Glasgow G12 8QQ, Lanark, Scotland

[12] Univ Stirling, Sch Sport, Stirling FK9 4LA, Scotland

[13] Australian Inst Sport, Canberra, ACT, Australia

[14] St Petersburg Res Inst Phys Culture, Sports Genet Lab, St Petersburg, Russia

[15] Volga Reg State Acad Phys Culture Sport & Tourism, Sport Technol Educ Res Lab, Kazan, Russia

[16] Xi An Jiao Tong Univ, Suzhou Acad, Xian 710049, Peoples R China

[17] Childrens Hosp Westmead, Sydney, NSW, Australia

[18] Univ Sydney, Sydney Med Sch, Sydney, NSW 2006, Australia

[19] Aristotle Univ Thessaloniki, Dept Phys Educ & Sport Sci, GR-54006 Thessaloniki, Greece

[20] UCL, UCL Inst Human Hlth & Performance, London, England

[21] Univ Glasgow, Coll Med Vet & Life Sci, Sch Life Sci, Glasgow G12 8QQ, Lanark, Scotland

来源：

MEDICINE AND SCIENCE IN SPORTS AND EXERCISE | 2013年 / 45卷 / 05期

关键词：

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;

D O I：

10.1249/MSS.0b013e31827c501f

中图分类号：

G8 [体育];

学科分类号：

04 ; 0403 ;

摘要：

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, <= 400 m, n = 130; long distance, 9400 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.

引用

页码：892 / 900

页数：9

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