Abstract
BackgroundThe 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.ResultsThe 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 (VO2max). 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).ConclusionsThe 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.
Highlights
IntroductionThe main findings of the present study were: (i) a significantly lower frequency of the Adenosine monophosphate deaminase 1 gene (AMPD1) T allele among the investigated group of elite Lithuanian sprint/ power athletes compared to sedentary controls; and (ii) the AMPD1 CC genotype is associated with anaerobic muscle performance (Vertical Jump)
It is a view shared among many researchers that this gene variation has an impact on human physical characteristics [1,5,7,12].The main findings of the present study were: (i) a significantly lower frequency of the Adenosine monophosphate deaminase 1 gene (AMPD1) T allele among the investigated group of elite Lithuanian sprint/ power athletes compared to sedentary controls; and (ii) the AMPD1 CC genotype is associated with anaerobic muscle performance (Vertical Jump)
The distribution of AMPD1 C34T polymorphism genotype and allele frequencies in 204 Lithuanian athletes was compared to 260 healthy untrained individuals
Summary
The main findings of the present study were: (i) a significantly lower frequency of the AMPD1 T allele among the investigated group of elite Lithuanian sprint/ power athletes compared to sedentary controls; and (ii) the AMPD1 CC genotype is associated with anaerobic muscle performance (Vertical Jump). The C34T polymorphism in the AMPD1 gene encoding for the skeletal muscle-specific isoform of AMP deaminase (AMPD1) is a common variation among Caucasians that can impair exercise capacity [3]. 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. Other important functions of the purine nucleotide cycle are the deamination of amino acids and the regulation of the glycolytic pathway by the formation of ammonia and IMP [7,8,9]
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