The ACTN3 R577X Polymorphism in East and West African Athletes

YANG, NAN1; MACARTHUR, DANIEL G.1; WOLDE, BEZABHE2; ONYWERA, VINCENT O.3; BOIT, MICHAEL K.3; LAU, SAU YIN MARY-ANN1; WILSON, RICHARD H.4; SCOTT, ROBERT A.4; PITSILADIS, YANNIS P.4; NORTH, KATHRYN1,5

Medicine & Science in Sports & Exercise:
doi: 10.1249/mss.0b013e31814844c9
BASIC SCIENCES: Original Investigations
Abstract

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 × 106 Markov chain steps, and 1 × 105 dememorization steps.

Results: The frequency of the X allele was extremely low among Kenyans and Nigerians (∼1% homozygosity) and higher in Ethiopians (∼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 α-actinin-3 deficiency is not a major influence on performance in African athletes.

Author Information

1Institute for Neuromuscular Research, the Children's Hospital at Westmead, Sydney, AUSTRALIA; 2Kotebe College of Teacher Education, Addis Ababa, ETHIOPIA; 3Department of Exercise and Sports Science, Kenyatta University, Nairobi, KENYA; 4International Centre for East African Running Science (ICEARS), University of Glasgow, Glasgow, SCOTLAND; and 5Discipline of Paediatrics and Child Health, Faculty of Medicine, University of Sydney, AUSTRALIA

Address for correspondence: Kathryn North, M.D., FRACP, Associate Dean and Head of Discipline, Paediatrics and Child Health, Faculty of Medicine, University of Sydney, Head, Neurogenetics Research Unit, Deputy Head, Institute for Neuromuscular Research, The Children's Hospital at Westmead, Locked Bag 4001, Westmead, 2145, Sydney, NSW, Australia; E-mail: kathryn@chw.edu.au.

Submitted for publication February 2007.

Accepted for publication June 2007.

©2007The American College of Sports Medicine