ACTN3 and AMPD1 Polymorphism and Genotype Combinations in Bulgarian Athletes Performing Wingate Test

The aim of the study was to investigate ACTN3 （ct-actinin-3） and AMPD1 （adenosine monophosphate deaminase） polymorphism and genotype combinations in Bulgarian athletes competing in various sports and the relation to peak power output. A mixed group of athletes （n = 52） competing at national and international level and a matching genetic control group （n = 109） of volunteers were recruited. Participants were genotyped for ACTN3 and AMPD1 by polymerase chain reaction. There were no significant differences in ACTN3 genotype distribution between athletes performing Wingate test （38% RR, 46% RX, 16% XX） and controls （41.2% RR, 46% RX, 12.8% XX）. AMPD1 distribution was （73% CC, 27% CT, 0% TT） and in controls （73.2% CC, 25% CT, 1.8% TT）. Athletes performing Wingate test showed equal 33% frequency of RR/CC and RX/CC combination, and 12% RX/CT. Significantly higher （P 〈 0.05） peak power output （11.10 W kg1） was found in athletes with RX/CT combination compared to other combinations （range： 8.83-9.71 W kg-1） and in R-power （RR ＋ RX） and C-power （CC ＋ CT） dominant models （9.91 W kgl）. Mean power was higher （P 〈 0.05） in RX/CT combination （8.93 W kg-1） compared to RR/CC （7.75 W kg-1） and RR/CT （7.95 W kgl）. In conclusion, the low frequency of T AMPD1 allele in Bulgarian athletes might indicate that this mutant allele is related to the physical performance. The prevalence of R ACTN3 and C AMPD1 alleles suggests that they could contribute to anaerobic performance. Higher peak power in Wingate test is associated with RX/CT genotype combination and R- and C-power dominant models.