ACTN3 R577X and other polymorphisms are not associated with elite  endurance athlete status in the Genathlete study.

doi:10.1080/02640414.2010.507675

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Article

ACTN3 R577X and other polymorphisms are not associated with elite endurance athlete status in the Genathlete study.

Journal of sports sciences - 1 Oct 2010

Döring Frank E, Onur Simone, Geisen Ulf, Boulay Marcel R, Pérusse Louis, Rankinen Tuomo, Rauramaa Rainer, Wolfahrt Bernd, Bouchard C

Abstract excerpt

Homozygosity for a premature stop codon at amino acid position 577 in the alpha-actinin-3 (ACTN3) gene leads to α-actinin-3 deficiency. This genotype is observed in approximately 18% of Caucasians. The ACTN3 R577X polymorphism has been previously associated with indicators of physical performance in several, but not all, studies. We examined the prevalence of R577X (rs1815739) and two additional haplotype tagging...

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PMID: 20845221
DOI: 10.1080/02640414.2010.507675

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ACTN3

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