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- W2004644537 abstract "A common nonsense polymorphism, R577X, results in α-actinin-3 deficiency in the ∼18% of Europeans and ∼25% of Asians homozygous for the × allele (North et al. Nature Genet. 21: 353–354, 1999). A strong association has recently been found between the R577X polymorphism and elite athlete status in a Caucasian population, with the α-actinin-3-deficient XX genotype being present at a lower frequency than controls in sprint/power athletes, and at a slightly higher frequency in elite endurance athletes (Yang et al. Am J Hum Genet. 73: 627–631, 2003). PURPOSE To determine the extent of involvement of the R577X polymorphism in the success of elite East African endurance runners. METHODS The ACTN3 genotype distributions of elite Ethiopian (N = 113) and Kenyan (N = 331) athletes were compared to controls drawn from the general Ethiopian (N = 203) and Kenyan (N = 79) populations, and to Caucasian Australian controls (N = 426). Frequency differences between groups were assessed using Chi-square tests. RESULTS There were marked differences in R577X genotype frequencies between controls from the three ethnic groups: the overall frequency of the × allele was highest (44%) in Caucasians, intermediate (34%) in Ethiopians, and lowest (9%) in Kenyans. The R577X genotype frequencies of elite runners from Ethiopia and Kenya did not differ significantly from their respective control populations (Ethiopians: controls (RR = 43%, RX = 46%, XX = 11%) and runners (RR = 47%, RX = 44%, XX = 9%); Kenyans: controls (RR = 81%, RX = 18%, XX = 1%) and runners (RR = 76%, RX = 23%, XX = 1%)). CONCLUSION The absence of an association between R577X and elite athlete status in the two East-African populations studied is in contrast with previous findings in Caucasian athletes (Yang et al. Am J Hum Genet. 73: 627–631, 2003) and suggests that this polymorphism does not contribute significantly to the phenomenal success of elite East African endurance runners. Supported in part by NHMRC grant (#301950) to KN North and N Yang." @default.
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- W2004644537 date "2005-05-01" @default.
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- W2004644537 title "Actn3 Genotype Is Not Associated With Elite Endurance Athlete Status In Ethiopians And Kenyans" @default.
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