Association of the ACTN3 R577X polymorphism with power athlete status in Russians

Abstract

The alpha-actinin-3 (ACTN3) gene encodes a Z-disc structural protein which is found only in fast glycolytic muscle fibers. A common nonsense polymorphism in codon 577 of the ACTN3 gene (R577X) results in alpha-actinin-3 deficiency in XX homozygotes. Previous reports have shown a lower proportion of the ACTN3 XX genotype in power-oriented athletes compared to the general population. In the present study we tested whether XX genotype was under-represented in Russian power-oriented athletes. The study involved 486 Russian power-oriented athletes of regional or national competitive standard. ACTN3 genotype and allele frequencies were compared to 1,197 controls. The frequencies of the ACTN3 XX genotype (6.4 vs. 14.2%; P < 0.0001) and X allele (33.3 vs. 38.7%; P = 0.004) were significantly lower in power-oriented athletes compared to controls. Furthermore, the lowest (3.4%) frequency of the ACTN3 XX genotype was found in a group of highly elite athletes, supporting the hypothesis that the presence of alpha-actinin-3 has a beneficial effect on the function of skeletal muscle in generating forceful contractions at high velocity. In conclusion, ACTN3 R577X polymorphism was associated with power athlete status in Russians.

Is the interaction between HIF1A P582S and ACTN3 R577X determinant for power/sprint performance?

“…Although sprint performance is likely a polygenic trait, only a few single nucleotide polymorphisms (SNP's), namely ACTN3 R577X [1][2][3][4], ACE I/D [5][6][7] and more recently eNOS -786 T/C [8] and, IL-6 -174G/C ( ), were found to be associated with sprint performance.…”

“…Energy system contribution during 200-to 1500-m running in highly trained athletes, it can be assumed that the proportion of the Ser582 allele will be higher among sprinters compared to endurance athletes and sedentary controls. Therefore, the purposes of the present study were 1) to compare the frequency distribution of the HIF1A Pro582Ser (rs11549465) polymorphism between athletes of sports with different demands (endurance vs. sprinters) as well as between athletes of competitive levels (elite-level vs. national-level), and 2) to test the influence of the interaction between the HIF1A Pro582Ser and the ACTN3 R577X (rs1815739) genotypes, since the ACTN3 R577X polymorphism was previously reported to influence power-oriented top-level athletic performance in a broad variety of ethnic groups [1][2][3][4].…”

Physiological variables and mitochondrial-related genotypes of an athlete who excels in both short and long-distance running

“…It has been demonstrated that the RR genotype is over-represented in several groups of power-athletes (Druzhevskaya et al 2008;Eynon et al 2009e;Niemi and Majamaa, 2005;Yang et al 2003), with the overall conclusion that this specific genotype may confer an advantage in power-oriented sports events, e.g. sprint, jumping or throwing.…”

“…We genotyped six genetic SNPs in the PPARGC1A-NRF-TFAM pathway genes, which are known to be associated with endurance exercise performance capacity: (Eynon et al 2009d;He et al 2008); (iii) NRF2 C/T (rs8031031) (Eynon et al 2009a); (iv) peroxisome proliferator-activated receptor alpha (PPARA) intron 7 G/C (rs4253778) (Ahmetov et al 2006;Eynon et al 2009b); (v) peroxisome proliferator-activated delta (PPARD) C294T (Eynon et al 2009c); (Skogsberg et al 2003); and (vi) PPARGC1A Gly482Ser (Eynon et al 2009c;Lucia et al 2005). We also studied the ACTN3 R577X polymorphism, which is known to be associated with power-oriented performance (Druzhevskaya et al 2008;Eynon et al 2009e;Niemi and Majamaa, 2005;Yang et al 2003). The studied polymorphisms and genotypes of the Israeli endurance runner are presented in Table 2.…”

“…To date, over 20 single nucleotide polymorphisms (SNPs) have been found to be individually associated with elite athletic status, ranging from endurance to sprint/power-oriented events (Ostrander et al 2009). Among them are muscle-specific SNPs namely; the R577X substitution in the α-actinin-3 (ACTN3) gene (Druzhevskaya et al 2008;Eynon et al 2009e;Niemi and Majamaa, 2005;Yang et al 2003), and the A/G SNP in the muscle-specific creatine kinase (CK-MM Ncol) gene ( Santiago et al 2010). …”