The ACTN3 R577X polymorphism in East and West African athletes.

Authors:
Nan Yang
Nan Yang
Third Military Medical University
China
Daniel G Macarthur
Daniel G Macarthur
Massachusetts General Hospital
Boston | United States
Vincent O Onywera
Vincent O Onywera
Kenyatta University
Canada
Michael K Boit
Michael K Boit
Institute of Biomedical and Life Sciences
United Kingdom
Richard H Wilson
Richard H Wilson
University of Glasgow
United Kingdom
Robert A Scott
Robert A Scott
University of Cambridge School of Clinical Medicine
United Kingdom

Med Sci Sports Exerc 2007 Nov;39(11):1985-8

Institute for Neuromuscular Research, Children's Hospital at Westmead, Sydney, Australia.

Purpose: To determine the frequency of the ACTN3 R577X polymorphism (functional R allele and nonfunctional X allele) in a variety of African populations and to examine its influence on the success of elite East African endurance runners and West African sprinters.

Methods: The R577X polymorphism was genotyped in 198 Ethiopian controls and 76 elite Ethiopian endurance athletes, 158 Kenyan controls and 284 elite Kenyan endurance runners, and 60 Nigerian controls and 62 elite Nigerian power athletes. Statistical analyses were performed by exact tests of population differentiation, using Arlequin, version 3. Analyses were carried out using 1 x 10(6) Markov chain steps, and 1 x 10(5) dememorization steps.

Results: The frequency of the X allele was extremely low among Kenyans and Nigerians (approximately 1% homozygosity) and higher in Ethiopians (approximately 11% homozygosity). The low baseline frequencies of the three populations tested mean that any associations with sprint performance would likely be obscured. In Ethiopians, where baseline levels of 577XX were about 11%, there was no increased frequency in the endurance athletes.

Conclusion: Our data suggest that alpha-actinin-3 deficiency is not a major influence on performance in African athletes.

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http://dx.doi.org/10.1249/mss.0b013e31814844c9DOI Listing
November 2007
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