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No Association of the ACTN3 Gene R577X Polymorphism with Endurance Performance in Ironman Triathlons
Author(s) -
Saunders C. J.,
September A. V.,
Xenophontos S. L.,
Cariolou M. A.,
Anastassiades L. C.,
Noakes T. D.,
Collins M.
Publication year - 2007
Publication title -
annals of human genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.537
H-Index - 77
eISSN - 1469-1809
pISSN - 0003-4800
DOI - 10.1111/j.1469-1809.2006.00385.x
Subject(s) - allele , genotype , biology , polymorphism (computer science) , genetics , allele frequency , nonsense mutation , gene , medicine , endocrinology , phenotype , missense mutation
Summary Alpha‐actinins are major structural components of the Z‐discs in skeletal muscle. Alpha‐actinin 3 is encoded by the ACTN3 gene and is expressed only in type II muscle fibres. Homozygosity for the nonsense mutation, 577X, within ACTN3 results in deficiency of α‐actinin‐3 but does not result in an abnormal muscular phenotype. Previous research has found an association of the 577R allele with sprinting and/or power performance. It has also been suggested that the 577X allele may confer an advantage during endurance events. Four hundred and fifty seven Caucasian male triathletes who completed either the 2000 and/or 2001 226 km South African Ironman Triathlons, and 143 Caucasian controls, were genotyped for the R577X mutation within the ACTN3 gene. There were no significant differences in either the genotype (P = 0.486) or allele (P = 0.375) frequencies within the fastest, middle of the field or slowest Caucasian male finishers and the control population. In conclusion, the R577X polymorphism within the ACTN3 gene was not associated with ultra‐endurance performance in the 2000 and 2001 South African Ironman Triathlons.