Short Report

European Journal of Human Genetics (2008) 16, 391–394; doi:10.1038/sj.ejhg.5201964; published online 28 November 2007

The ACTN3 R577X nonsense allele is under-represented in elite-level strength athletes

Stephen M Roth1, Sean Walsh1, Dongmei Liu1, E Jeffrey Metter2, Luigi Ferrucci2 and Ben F Hurley1

  1. 1Department of Kinesiology, University of Maryland College Park School of Public Health, College Park, MD, USA
  2. 2Clinical Research Branch, National Institute on Aging, Harbor Hospital, Baltimore, MD, USA

Correspondence: Dr SM Roth, Department of Kinesiology, University of Maryland, 2134 HHP Building, College Park, MD 20742, USA. Tel: +1 301 405 2504; Fax: +1 301 405 5578; E-mail: sroth1@umd.edu

Received 5 September 2007; Revised 23 October 2007; Accepted 25 October 2007; Published online 28 November 2007.

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Abstract

Previous reports have shown a lower proportion of the ACTN3 X/X genotype (R577X nonsense polymorphism) in sprint-related athletes compared to the general population, possibly attributed to impairment of muscle function related to α-actinin-3 deficiency. In the present study, we examined the frequency of the X/X genotype in both Black and White elite-level bodybuilders and strength athletes in comparison to the general population. A reference population of 668 Whites (363 men and 305 women) and 208 Blacks (98 men and 110 women) was genotyped for the ACTN3 R577X polymorphism. Strength athletes (52 white and 23 black; 4 women) consisting predominantly of world class and locally competitive bodybuilders, and elite powerlifters were recruited and similarly genotyped. Significantly lower X/X genotype frequencies were observed in the athletes (6.7%) vs controls (16.3%; P=0.005). The X/X genotype was significantly lower in White athletes (9.7%) vs controls (19.9%; P=0.018). No black athletes (0%) were observed with the X/X genotype, though this finding only approached statistical significance vs controls (4.8%; P=0.10). The results indicate that the ACTN3 R577X nonsense allele (X) is under-represented in elite strength athletes, consistent with previous reports indicating that α-actinin-3 deficiency appears to impair muscle performance.

Keywords:

skeletal muscle, polymorphism, muscle strength

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Nature Genetics News and Views (01 Oct 2003)