Association analysis of ACE and ACTN3 in Elite Caucasian and East Asian Swimmers

Purpose: 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: One hundred and ninety-three elite Caucasian swimmers from European, Commonwealth, Russian and American cohorts (short and middle distance, SMD ≤ 400 m, n = 125; long distance, LD > 400 m, n = 68) and 326 elite Japanese and Taiwanese swimmers (short distance, SD ≤ 100 m, n = 160; middle distance, MD: 200 – 400 m, n = 166) were genotyped for ACE I/D and ACTN3 R577X. Genetic associations were evaluated by logistic regression. Results: ACE I/D was associated with swimmer status in Caucasians, with the D-allele being overrepresented in SMD swimmers under both additive and I-allele-dominant models (permutation adjusted p = 0.003 and p = 0.0005, respectively). ACE I/D was also associated with swimmer status in East Asians. In this group, the I-allele was overrepresented in the SD swimmer group (permutation adjusted p = 0.036 and p = 0.008 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.