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

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.

Current Progress in Sports Genomics

“…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.…”

“…Indeed, Cieszczyk et al [211] have shown that Polish poweroriented athletes (n ¼ 158; short-distance runners, short-distance swimmers, and weightlifters) have a significantly lower (5.4% vs. 13.1%; P ¼ 0.0007) frequency of the AMPD1 12X allele than controls (n ¼ 160). These results were replicated in cohorts of Russian power-oriented athletes (n ¼ 305; boxing, wrestling, speed skating (500-1500 m), powerlifting, swimming (50-100 m), weightlifting; frequency of the 12X allele: 8.4% vs. 15.0%; P < 0.0001, in comparison with 499 controls) [212] and 47 Lithuanian sprint and power athletes (frequency of the 12X allele: 4.3% vs. 16.0%; P ¼ 0.039, in comparison with 260 controls) [58].…”

Association Study between Idiopathic Scoliosis and Polymorphic Variants of VDR, IGF-1, and AMPD1 Genes

“…The nonsense mutation c.34C > T (C to T transition in nucleotide 34, p.Gln12X, rs17602729) in exon 2 of the AMPD1 gene converts glutamine codon (CAA) into the premature stop codon (TAA), which results in the early interruption of protein synthesis and appears to be the main cause of AMPD deficiency [ 18 ]. Studies have shown that part of the population who express the mutant AMPD1 T-allele (2% of the Caucasian population are homozygous) are vulnerable to muscle weakness, muscular cramps, pain, and premature fatigue during exercises [ 19 ].…”

How do your genetics compare to the world’s elite marathoners?

“…In our dataset marathoners tended to have a higher proportion of individuals without this variation. Likewise, AMPD1 rs17602729 (allele G), also has been implicated in increased endurance (Ginevičienė et al 2014). We found that a higher proportion of marathoners in our dataset were only carriers of this allele (G;A genotypes).…”