title: ACTN3 genotype in professional endurance cyclists.
abstract: The Z-disk protein alpha-actinin-3 is only expressed in type II muscle fibres, which are responsible for generating forceful contractions at high velocity. Despite the evolutionary conservation of alpha-actinin-3, approximately one in every five Caucasians of European ancestry is totally deficient in this protein, due to homozygosity for a R577X polymorphism in the ACTN3 gene. This, together with the results of recent research on elite athletes, suggests that the "null" XX polymorphism might confer some advantage to endurance performance events. To test this hypothesis, we studied the frequency distribution of R577X genotypes in a group of 50 top-level male professional cyclists (26.9 +/- 0.4 yrs [mean +/- SEM]; VO2max: 73.5 +/- 0.8 ml x kg (-1) x min (-1)). Their results were compared with those of a group of 52 Olympic-class male endurance runners (26.8 +/- 0.6 yrs; VO2max: 73.3 +/- 0.8 ml x kg (-1) x min (-1)) and 123 healthy, sedentary male controls. All subjects were Caucasian, and of European ancestry. No significant differences (p > 0.05) were found between groups: RR: 28.5 %; RX: 53.6 % and XX: 17.9 % in controls; RR: 28.0 %; RX: 46.0 % and XX: 26.0 % in cyclists; and RR: 25.0 %; RX: 57.7 %; XX: 17.3 % in runners). No differences were found in indices of endurance performance (VO2peak or ventilatory thresholds) between athlete carriers of each R577X genotype. In summary, although the alpha-actinin-3 deficient XX genotype may be detrimental for sprint performance in humans, the R577X polymorphism of the ACTN3 gene does not appear to confer an advantage on the ability of male athletes to sustain extreme endurance performance.
authors.affiliation: European University of Madrid, Madrid, Spain. alejandro.lucia@uem.es
authors.forename: A
authors.initials: A
authors.lastname: Lucia
authors.forename: F
authors.initials: F
authors.lastname: Gómez-Gallego
authors.forename: C
authors.initials: C
authors.lastname: Santiago
authors.forename: F
authors.initials: F
authors.lastname: Bandrés
authors.forename: C
authors.initials: C
authors.lastname: Earnest
authors.forename: M
authors.initials: M
authors.lastname: Rabadán
authors.forename: J M
authors.initials: JM
authors.lastname: Alonso
authors.forename: J
authors.initials: J
authors.lastname: Hoyos
authors.forename: A
authors.initials: A
authors.lastname: Córdova
authors.forename: G
authors.initials: G
authors.lastname: Villa
authors.forename: C
authors.initials: C
authors.lastname: Foster
mesh_terms: D000185:Actinin / Q000172:deficiency / Q000235:genetics*; D000328:Adult; D000483:Alleles; D000704:Analysis of Variance; D001642:Bicycling; D016022:Case-Control Studies; D016009:Chi-Square Distribution; D005787:Gene Frequency / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D021141:Nucleic Acid Amplification Techniques; D010807:Physical Endurance / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics*; D012123:Pulmonary Ventilation / Q000502:physiology*; D012420:Running
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin