Associations between cardiorespiratory responses to exercise and the C34T AMPD1 gene polymorphism in the HERITAGE Family Study

Physiol Genomics. 2003 Jul 7;14(2):161-6. doi: 10.1152/physiolgenomics.00165.2002.


The associations of the C34T polymorphism of the adenosine monophosphate deaminase 1 (AMPD1) gene with cardiorespiratory phenotypes were tested during cycling exercise at absolute and relative power outputs progressing to exhaustion before and after endurance training for 20 wk in the HERITAGE Family Study cohort (n = 779). Since no blacks were mutant homozygotes (TT), only whites were considered for analysis (400 normal homozygotes, CC; 97 heterozygotes, CT; and 6 TT). For sedentary state, cycling at the absolute power output of 50 W resulted in a higher rating of perceived exertion in TT (P < 0.0001). At the relative intensity of 60% of Vo(2 max), stroke volume was lower in TT (P < 0.05). Maximal values for power output, systolic blood pressure, heart rate, Vco(2), and respiratory exchange ratio were lower in TT (P < 0.05). The cardiorespiratory training response at 50 W and at 60% of Vo(2 max) was similar across C34T-AMPD1 genotypes. However, the maximal values for ventilation, Vo(2), and Vco(2) during exercise increased less in TT (P < 0.01). The results indicate that subjects with the TT genotype at the C34T AMPD1 gene have diminished exercise capacity and cardiorespiratory responses to exercise in the sedentary state. Furthermore, the training response of ventilatory phenotypes during maximal exercise is more limited in TT.

Publication types

  • Multicenter Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • AMP Deaminase / genetics*
  • Adolescent
  • Adult
  • Aged
  • Alleles
  • Bicycling / physiology
  • Cardiovascular Physiological Phenomena*
  • Cohort Studies
  • Cytosine / physiology*
  • Female
  • Genetics, Population
  • Genotype
  • Humans
  • Male
  • Middle Aged
  • Muscle, Skeletal / enzymology
  • Muscle, Skeletal / physiology
  • Oxygen Consumption / genetics
  • Oxygen Consumption / physiology
  • Physical Exertion / physiology*
  • Polymorphism, Genetic / genetics*
  • Polymorphism, Genetic / physiology
  • Respiratory Physiological Phenomena*
  • Thymine / physiology*


  • Cytosine
  • AMP Deaminase
  • Thymine