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Background  The C34T genetic polymorphism (rs17602729) in the  AMPD1  gene, encoding the skeletal muscle-specific isoform of adenosine monophosphate deaminase (AMPD1), is a common polymorphism among Caucasians that can impair exercise capacity. The aim of the present study was twofold: (1) to determine the C34T  AMPD1  allele/genotype frequency distributions in Lithuanian athletes (n = 204, stratified into three groups:  endurance ,  sprint/power  and  mixed ) and compare them with the allele/genotype frequency distributions in randomly selected healthy Lithuanian non-athletes (n = 260) and (2) to compare common anthropometric measurements and physical performance phenotypes between the three groups of athletes depending on their  AMPD1  genotype.    Results  The results of our study indicate that the frequency of the  AMPD1  TT genotype was 2.4% in the control group, while it was absent in the athlete group. There were significantly more sprint / power-orientated athletes with the CC genotype (86.3%) compared with the endurance-orientated athletes (72.9%), mixed athletes (67.1%), and controls (74.2%). We determined that the  AMPD1 C34T  polymorphism is not associated with aerobic muscle performance phenotype (VO 2 max). For CC genotype the short-term explosive muscle power value (based on Vertical Jump test) of athletes from the sprint / power group was significantly higher than that of the endurance group athletes ( P  < 0.05). The  AMPD1  CC genotype is associated with anaerobic performance (Vertical Jump).    Conclusions  The  AMPD1  C allele may help athletes to attain elite status in sprint/power-oriented sports, and the T allele is a factor unfavourable for athletics in sprint/power-oriented sports categories. Hence, the  AMPD1  C allele can be regarded as a marker associated with the physical performance of sprint and power. Replications studies are required to confirm this association.

AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes