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Physiol. Genomics (June 3, 2003). doi:10.1152/physiolgenomics.00165.2002
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Submitted on November 20, 2002
Accepted on May 27, 2003

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

Jesus Rico-Sanz1, Tuomo Rankinen1, Denis R Joanisse2, Arthur S Leon3, James S Skinner4, James H Wilmore5, D.C. Rao6, and Claude Bouchard1*

1 Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, Louisiana, USA
2 Laval Hospital Research Center & Division of Kinesiology, Laval University, Sainte-Foy, Quebec, Canada
3 Laboratory of Physiological Hygiene and Exercise Science, Division of Kinesiology, University of Minnesota, Minneapolis, Minnesota, USA
4 Department of Kinesiology, Indiana University, Bloomington, Indiana, USA
5 Department of Health and Kinesiology, Texas A & M University, College Station, Texas, USA
6 Division of Biostatistics and Departments of Genetics and Psychiatry, Washington University School of Medicine, St. Louis, Missouri, USA

* To whom correspondence should be addressed. E-mail: Bouchac{at}PBRC.edu.

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 weeks in the HERITAGE Family Study cohort (n=779). Since no Blacks were mutant homozygotes (TT), only Caucasians were considered for analysis (400 normal homozygotes, CC; 97 heterozygotes, CT; and 6 TT). 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 VO2 max, stroke volume was lower in TT (p<0.05). Maximal values for power output, SBP, HR, VCO2, and RER were lower in TT (p<0.05). Response to Training: The cardiorespiratory training response at 50 W and at 60% of VO2 max was similar across C34T-AMPD1 genotypes. However, the maximal values for ventilation, VO2, and VCO2 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.




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