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.
PURPOSE: To determine the frequency of the ACTN3R577X 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.
Authors: Juan Del Coso; Danielle Hiam; Peter Houweling; Laura M Pérez; Nir Eynon; Alejandro Lucía Journal: Eur J Appl Physiol Date: 2018-10-16 Impact factor: 3.078
Authors: Nir Eynon; Erik D Hanson; Alejandro Lucia; Peter J Houweling; Fleur Garton; Kathryn N North; David J Bishop Journal: Sports Med Date: 2013-09 Impact factor: 11.136
Authors: Nir Eynon; Jonatan R Ruiz; Pedro Femia; Vladimir P Pushkarev; Pawel Cieszczyk; Agnieszka Maciejewska-Karlowska; Marek Sawczuk; Dmitry A Dyatlov; Evgeny V Lekontsev; Leonid M Kulikov; Ruth Birk; David J Bishop; Alejandro Lucia Journal: PLoS One Date: 2012-08-16 Impact factor: 3.240
Authors: Scott M Friedlander; Amanda L Herrmann; Daniel P Lowry; Emily R Mepham; Monkol Lek; Kathryn N North; Chris L Organ Journal: PLoS One Date: 2013-01-24 Impact factor: 3.240