ACTN3 R577X polymorphism and Israeli top-level athletes.
Int J Sports Med
; 30(9): 695-8, 2009 Sep.
Article
in En
| MEDLINE
| ID: mdl-19544227
ABSTRACT
A common genetic variation in the alpha-actinin-3 ( ACTN3) gene causes a replacement of an arginine (R) with a premature stop codon (X) at amino-acid 577 (rs1815739). While the R allele has been found to be associated with power-oriented performance, the XX genotype may be linked with endurance ability. To test this hypothesis, we studied the distribution of ACTN3 genotypes in 155 Israeli athletes (age=35.9+12.2 years) classified by sport (endurance runners and sprinters) and in 240 sedentary individuals. The sprinters' allele frequencies (AF R/X=0.7/0.3) and 577RR genotype distribution percentage (GD RR=52%) differed markedly from those of the endurance athletes (AF R/X=0.53/0.47, p=0.000007; GD RR=18%, p=0.00009) and the control group (AF R/X=0.55/0.45, p=0.0002; GD RR=27.3%, p=0.000003). A comparison between the top-level and national-level sprinters revealed that the R allele occurs more often in the top-level sprinters. A significantly higher proportion of the XX genotype was observed in endurance athletes (34%) compared with controls (18%, p=0.02) and sprinters (13%, p=0.002). However, top-level and national level endurance athletes had similar allele and genotype frequencies. We conclude that the ACTN3 R allele is associated with top-level sprint performance and the X allele and XX genotypes may not be critical but rather additive to endurance performance.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Physical Endurance
/
Running
/
Actinin
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Athletic Performance
Limits:
Adult
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
Int J Sports Med
Year:
2009
Document type:
Article
Affiliation country: