Is the C34T Polymorphism of the AMPD1 Gene Associated with Athlete Performance in Rowing?

Abstract

The skeletal muscle-specific isoform of adenosine monophosphate deaminase (AMPD) is one of the most important regulators of muscle energy metabolism. A nonsense C to T transition in nucleotide 34 (C34T) in exon 2 of AMPD1 gene converts the codon CAA into the premature stop-codon TAA. 127 Polish male rowers including Olympic and world champions were recruited for this study. Controls samples were obtained from 251 unrelated volunteers. Statistically significant differences in genotype distribution were observed when only a whole group of rowers (88.19% CC, 11.81% CT, 0% TT; p=0.009) were compared with controls (75.31% CC, 23.10% CT, 1,59% TT). A significant deficiency of the T allele compared to control samples was noted in the elite rowers (4.55%, p=0.021) and non-elite rowers (6.63%, p=0.023), whereas this trend was even stronger when compared with the controls for the whole group of rowers (5.91%, p=0.002). Our results suggest that the T allele is associated with physical performance level, therefore, it may be included in the group of performance altering polymorphisms as a negative factor to athletic performance.

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

“…The AMPD1 skeletal enzyme is a very important regulator of muscle energy metabolism during exercise. AMPD1 is activated during short-term, high-intensity exercise, when the rate of ATP use exceeds the cell’s potential to resynthesize it [13]. Previous studies have shown that individuals with the AMPD1 TT genotype exhibit low AMPD1 activity and a faster accumulation of blood lactate during early recovery from a 30-s sprint exercise [8,9].…”

“…However since no differences in indicators of endurance performance were found between athletes with different genotypes, it was concluded that the AMPD1 C34T variation does not significantly impair endurance performance [5,18]. Furthermore, two studies reported low frequency of the T allele in a group of top-level Spanish male endurance athletes [5] and Polish rowers [13] compared with controls. Several studies have shown that power-oriented athletes have a significantly lower frequency of the AMPD1 T allele than controls [7,14].…”

Current Progress in Sports Genomics

“…In a study of 935 Coronary artery disease patients, the carriers of the X allele had a significantly lower relative increase in peakVO 2 after 3 months of aerobic training [55]. Finally, two studies reported low frequency of the mutant X allele in a group of top-level Spanish male endurance athletes (cyclists and runners, n ¼ 104) [56] and 127 Polish rowers [57] compared with controls. However, this observation was not confirmed by Ginevičien_ e et al [58], when 84 Lithuanian athletes were compared with 260 controls.…”

AMPD1 Polymorphism and Response to Regadenoson

“…Sabina et al reported a 16-fold increase in postexercise adenosine levels in muscle biopsies obtained from subjects with AMPD1 deficiency compared with a twofold increase in controls [12]. Consistent with these findings, lower prevalence of AMPD1 T variant allele has been documented in top-level endurance athletes as compared with controls [1,15]. …”