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Advances in Exercise, Fitness, and Performance Genomics in 2010


Medicine & Science in Sports & Exercise: May 2011 - Volume 43 - Issue 5 - p 743-752
doi: 10.1249/MSS.0b013e3182155d21

This review of the exercise genomics literature emphasizes the strongest articles published in 2010 as defined by sample size, quality of phenotype measurements, quality of the exercise program or physical activity exposure, study design, adjustment for multiple testing, quality of genotyping, and other related study characteristics. One study on voluntary running wheel behavior was performed in 448 mice from 41 inbred strains. Several quantitative trait loci for running distance, speed, and duration were identified. Several studies on the alpha-3 actinin (ACTN3) R577X nonsense polymorphism and the angiotensin-converting enzyme (ACE) I/D polymorphism were reported with no clear evidence for a joint effect, but the studies were generally underpowered. Skeletal muscle RNA abundance at baseline for 29 transcripts and 11 single nucleotide polymorphisms (SNPs) were both found to be predictive of the V˙O2max response to exercise training in one report from multiple laboratories. None of the 50 loci associated with adiposity traits are known to influence physical activity behavior. However, physical activity seems to reduce the obesity-promoting effects of at least 12 of these loci. Evidence continues to be strong for a role of gene-exercise interaction effects on the improvement in insulin sensitivity after exposure to regular exercise. SNPs in the cAMP-responsive element binding position 1 (CREB1) gene were associated with training-induced HR response, in the C-reactive protein (CRP) gene with training-induced changes in left ventricular mass, and in the methylenetetrahydrofolate reductase (MTHFR) gene with carotid stiffness in low-fit individuals. We conclude that progress is being made but that high-quality research designs and replication studies with large sample sizes are urgently needed.

1Department of Kinesiology, School of Public Health, University of Maryland, College Park, MD; 2Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 3Medical Research Council Epidemiological Unit, Institute of Metabolic Science, Cambridge, UNITED KINGDOM; 4Division of Kinesiology, Department of Preventive Medicine, Laval University, Ste-Foy, Québec, CANADA; and 5Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, GERMANY

Address for correspondence: Claude Bouchard, Ph.D., Human Genomics Laboratory, Pennington Biomedical Research Center, 6400 Perkins Rd., Baton Rouge, LA 70808-4124; E-mail:

Submitted for publication January 2011.

Accepted for publication February 2011.

©2011The American College of Sports Medicine