title: The genetics of endurance: frequency of the ACTN3 R577X variant in Ironman World Championship athletes.
abstract: OBJECTIVE
  To investigate the frequency of the ACTN3 R577X polymorphism in elite endurance triathletes, and whether ACTN3 R577X is significantly associated with performance time.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  Saliva samples, questionnaires, and performance times were collected for 196 elite endurance athletes who participated in the 2008 Kona Ironman championship triathlon. Athletes were of predominantly North American, European, and Australian origin. A one-way analysis of variance was conducted to compare performance times between genotype groups. Multiple linear regression analysis was performed to model the effect of questionnaire variables and genotype on performance time. Genotype and allele frequencies were compared to results from different populations using the chi-square test.
  
  
  RESULTS
  Performance time did not significantly differ between genotype groups, and age, sex, and continent of origin were significant predictors of finishing time (age and sex: p<5×10(-6); continent: p=0.003) though genotype was not. Genotype and allele frequencies obtained (RR 26.5%, RX 50.0%, XX 23.5%, R 51.5%, X 48.5%) were found to be not significantly different from Australian, Spanish, and Italian endurance athletes (p>0.05), but were significantly different from Kenyan, Ethiopian, and Finnish endurance athletes (p<0.01).
  
  
  CONCLUSIONS
  Genotype and allele frequencies agreed with those reported for endurance athletes of similar ethnic origin, supporting previous findings for an association between 577X allele and endurance. However, analysis of performance time suggests that ACTN3 does not alone influence endurance performance, or may have a complex effect on endurance performance due to a speed/endurance trade-off.
authors.affiliation: Genomics Research Centre, Griffith Health Institute, Griffith University, Gold Coast, Australia.
authors.forename: Rebecca
authors.initials: R
authors.lastname: Grealy
authors.forename: Carl L E
authors.initials: CL
authors.lastname: Smith
authors.forename: Timothy
authors.initials: T
authors.lastname: Chen
authors.forename: Doug
authors.initials: D
authors.lastname: Hiller
authors.forename: Luke J
authors.initials: LJ
authors.lastname: Haseler
authors.forename: Lyn R
authors.initials: LR
authors.lastname: Griffiths
mesh_terms: D000185:Actinin / Q000235:genetics*; D000328:Adult; D000368:Aged; D056352:Athletes; D003430:Cross-Sectional Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D015201:Meta-Analysis as Topic; D008875:Middle Aged; D010807:Physical Endurance / Q000235:genetics*; D044469:Racial Groups / Q000235:genetics
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin