Background. Human ACE gene was one of the first genes to be associated with human physical performance. Previous studies have indicated that Alu insertion and deletion polymorphism (I/D polymorphism) in the ACE gene may be associated with elite athlete status.

Materials and methods. ACE I/D polymorphism was investigated by PCR and gel electrophoresis in 561 Lithuanian professional athletes and in 174 samples from general population of Lithuania.

Results. Genotypes for athletes were identified as I/I 24.8%, I/D 47.2% and D/D 28% (χ2 = 1.65, p = 0.19) and in the population samples as I/I 24.1%, I/D 38.5% and 37.4% (χ2 = 8.13, p = 0.004). In comparison with the general Lithuanian population, the tested athletes had a lower frequency of ACE D allele. The results of this research contradict the results reported on other populations: the D/D genotype was found to be less frequent in all Lithuanian athlete groups than in general population, whereas, according to other researchers, the D/D genotype is more frequent in athletes. Athletes assigned to the endurance sports group had a lower frequency of the D/D genotype than athletes in the speed / strength group, whereas other researchers have reported a higher frequency of D/D genotype in endurance groups.

Conclusion. The ACE D/D genotype was less frequent in athletes than in the general population. Athletes of endurance sports had a higher frequency of D/D genotype than athletes assigned to the speed / strength sports group. These results do not support the results of other investigations conducted in other populations, in which the I allele of the ACE gene was found to determine superior endurance.

Keywords: ACE I/D polymorphism, physical performance, elite athletes