title: AMPD1 rs17602729 is associated with physical performance of sprint and power in elite Lithuanian athletes.
abstract: 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 (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).
  
  
  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.
authors.affiliation: Department of Human and Medical Genetics, Faculty of Medicine, Vilnius University, Santariškių str, 2, LT-08661 Vilnius, Lithuania. valentina.gineviciene@gmail.com.
authors.forename: Valentina
authors.initials: V
authors.lastname: Ginevičienė
authors.forename: Audronė
authors.initials: A
authors.lastname: Jakaitienė
authors.forename: Aidas
authors.initials: A
authors.lastname: Pranculis
authors.forename: Kazys
authors.initials: K
authors.lastname: Milašius
authors.forename: Linas
authors.initials: L
authors.lastname: Tubelis
authors.forename: Algirdas
authors.initials: A
authors.lastname: Utkus
mesh_terms: D000659:AMP Deaminase / Q000235:genetics*; D000293:Adolescent; D000328:Adult; D000483:Alleles; D000886:Anthropometry; D056352:Athletes; D054874:Athletic Performance; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008097:Lithuania; D008297:Male; D053580:Muscle Strength / Q000235:genetics; D010807:Physical Endurance / Q000235:genetics; D011110:Polymorphism, Genetic; D055815:Young Adult
chemical_list: D000659:AMP Deaminase; C514117:AMPD1 protein, human