ACTN3 and ACE genotypes in elite Jamaican and US sprinters.
The angiotensin-converting enzyme (ACE) and the alpha-actinin-3 (ACTN3) genes are two of the most studied "performance genes" and both have been associated with sprint/power phenotypes and elite performance.


OBJECTIVE
To investigate the association between the ACE and the ACTN3 genotypes and sprint athlete status in elite Jamaican and US African American sprinters.


METHODS
The ACTN3 R577X and the ACE I/D and A22982G (rs4363) genotype distributions of elite Jamaican (J-A; N = 116) and US sprinters (US-A; N = 114) were compared with controls from the Jamaican (J-C; N = 311) and US African American (US-C; N = 191) populations. Frequency differences between groups were assessed by exact test.


RESULTS
For ACTN3, the XX genotype was found to be at very low frequency in both athlete and control cohorts (J-C = 2%, J-A = 3%, US-C = 4%, US-A = 2%). Athletes did not differ from controls in ACTN3 genotype distribution (J, P = 0.87; US, P = 0.58). Similarly, neither US nor Jamaican athletes differed from controls in genotype at ACE I/D (J, P = 0.44; US, P = 0.37). Jamaican athletes did not differ from controls for A22982G genotype (P = 0.28), although US sprinters did (P = 0.029), displaying an excess of heterozygotes relative to controls but no excess of GG homozygotes (US-C = 22%, US-A = 18%).


CONCLUSIONS
Given that ACTN3 XX genotype is negatively associated with elite sprint athlete status, the underlying low frequency in these populations eliminates the possibility of replicating this association in Jamaican and US African American sprinters. The finding of no excess in ACE DD or GG genotypes in elite sprint athletes relative to controls suggests that ACE genotype is not a determinant of elite sprint athlete status.
Scott
Robert A
RA
University of Glasgow, Glasgow, United Kingdom.
Irving
Rachael
R
Irwin
Laura
L
Morrison
Errol
E
Charlton
Vilma
V
Austin
Krista
K
Tladi
Dawn
D
Deason
Michael
M
Headley
Samuel A
SA
Kolkhorst
Fred W
FW
Yang
Nan
N
North
Kathryn
K
Pitsiladis
Yannis P
YP
D000185:Actinin / Q000235:genetics*; D000328:Adult; D056352:Athletes; D044383:Black People / Q000235:genetics*; D016022:Case-Control Studies; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007563:Jamaica; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D013177:Sports / Q000502:physiology*; D014481:United States; D001741:Black or African American
C118456:ACTN3 protein, human; D000185:Actinin; D007703:Peptidyl-Dipeptidase A