title: Association analysis of ACE and ACTN3 in elite Caucasian and East Asian swimmers.
abstract: OBJECTIVE
  Polymorphic variation in the angiotensin-converting enzyme (ACE) and α-actinin-3 (ACTN3) genes has been reported to be associated with endurance and/or power-related human performance. Our aim was to investigate whether polymorphisms in ACE and ACTN3 are associated with elite swimmer status in Caucasian and East Asian populations.
  
  
  METHODS
  ACE I/D and ACTN3 R577X genotyping was carried out for 200 elite Caucasian swimmers from European, Commonwealth, Russian, and American cohorts (short and middle distance, ≤400 m, n = 130; long distance, >400 m, n = 70) and 326 elite Japanese and Taiwanese swimmers (short distance, ≤100 m, n = 166; middle distance, 200-400 m, n = 160). Genetic associations were evaluated by logistic regression and other tests accommodating multiple testing adjustment.
  
  
  RESULTS
  ACE I/D was associated with swimmer status in Caucasians, with the D allele being overrepresented in short-and-middle-distance swimmers under both additive and I-allele-dominant models (permutation test P = 0.003 and P = 0.0005, respectively). ACE I/D was also associated with swimmer status in East Asians. In this group, however, the I allele was overrepresented in the short-distance swimmer group (permutation test P = 0.041 and P = 0.0098 under the additive and the D-allele-dominant models, respectively). ACTN3 R577X was not significantly associated with swimmer status in either Caucasians or East Asians.
  
  
  CONCLUSIONS
  ACE I/D associations were observed in these elite swimmer cohorts, with different risk alleles responsible for the associations in swimmers of different ethnicities. The functional ACTN3 R577X polymorphism did not show any significant association with elite swimmer status, despite numerous previous reports of associations with "power/sprint" performance in other sports.
authors.affiliation: Institute of Cardiovascular and Medical Sciences, College of Medical, Veterinary and Life Sciences, University of Glasgow, Glasgow, UK.
authors.forename: Guan
authors.initials: G
authors.lastname: Wang
authors.forename: Eri
authors.initials: E
authors.lastname: Mikami
authors.forename: Li-Ling
authors.initials: LL
authors.lastname: Chiu
authors.forename: Alessandra
authors.initials: A
authors.lastname: DE Perini
authors.forename: Michael
authors.initials: M
authors.lastname: Deason
authors.forename: Noriyuki
authors.initials: N
authors.lastname: Fuku
authors.forename: Motohiko
authors.initials: M
authors.lastname: Miyachi
authors.forename: Koji
authors.initials: K
authors.lastname: Kaneoka
authors.forename: Haruka
authors.initials: H
authors.lastname: Murakami
authors.forename: Masashi
authors.initials: M
authors.lastname: Tanaka
authors.forename: Ling-Ling
authors.initials: LL
authors.lastname: Hsieh
authors.forename: Sandy S
authors.initials: SS
authors.lastname: Hsieh
authors.forename: Daniela
authors.initials: D
authors.lastname: Caporossi
authors.forename: Fabio
authors.initials: F
authors.lastname: Pigozzi
authors.forename: Alan
authors.initials: A
authors.lastname: Hilley
authors.forename: Rob
authors.initials: R
authors.lastname: Lee
authors.forename: Stuart D R
authors.initials: SD
authors.lastname: Galloway
authors.forename: Jason
authors.initials: J
authors.lastname: Gulbin
authors.forename: Viktor A
authors.initials: VA
authors.lastname: Rogozkin
authors.forename: Ildus I
authors.initials: II
authors.lastname: Ahmetov
authors.forename: Nan
authors.initials: N
authors.lastname: Yang
authors.forename: Kathryn N
authors.initials: KN
authors.lastname: North
authors.forename: Saraslanidis
authors.initials: S
authors.lastname: Ploutarhos
authors.forename: Hugh E
authors.initials: HE
authors.lastname: Montgomery
authors.forename: Mark E S
authors.initials: ME
authors.lastname: Bailey
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
mesh_terms: D000185:Actinin / Q000235:genetics*; D044466:Asian People / Q000235:genetics*; D005202:Asia, Eastern; D005260:Female; D055106:Genome-Wide Association Study; D005838:Genotype; D060005:Genotyping Techniques / Q000379:methods; D006801:Humans; D054643:INDEL Mutation; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010807:Physical Endurance / Q000235:genetics*; D011110:Polymorphism, Genetic; D013550:Swimming / Q000502:physiology*; D044465:White People / Q000235:genetics*
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin; D007703:Peptidyl-Dipeptidase A