The muscle-specific isoform 1 of adenosine monophosphate deaminase (AMPD1) protein is a key regulator of the energy metabolism within muscle fibers. The AMPD1 protein is encoded by the AMPD1 gene, located on the short arm of the first chromosome (1p13.1). The most researched variation in the AMPD1 gene entails the change of cytosine to thymine at nucleotide 34 of the coding sequence located in exon 2 (c.34C > T, rs17602729).

Individuals carrying the mutant polypeptide sequence, whether homozygous (TT) or heterozygous (CT), exhibit lower and intermediate levels of myoadenylate deaminase compared with CC homozygotes.

This study revealed a significant association between the c.34C > T (rs17602729) polymorphism of the AMPD1 gene and the status of being classified as an elite endurance or power athlete compared with non-athletic controls.

Findings revealed that the CC genotype was overrepresented in endurance athletes versus controls, suggesting that possessing two copies of the C allele of the AMPD1 c.34C > T (rs17602729) polymorphism may be associated with a higher possibility of becoming an elite/sub-elite endurance athlete.

Similarly, the CC genotype was overrepresented in power athletes versus controls while CT and TT genotypes were underrepresented. This suggests that individuals with one or two copies of the T allele of the AMPD1 c.34C > T (rs17602729) have a lower probability of becoming elite/sub-elite power athletes.