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Advances in Exercise, Fitness, and Performance Genomics in 2012

PÉRUSSE, LOUIS1; RANKINEN, TUOMO2; HAGBERG, JAMES M.3; LOOS, RUTH J. F.4; ROTH, STEPHEN M.3; SARZYNSKI, MARK A.2; WOLFARTH, BERND5; BOUCHARD, CLAUDE2

Medicine & Science in Sports & Exercise: May 2013 - Volume 45 - Issue 5 - p 824–831
doi: 10.1249/MSS.0b013e31828b28a3
BASIC SCIENCES: Special Report

ABSTRACT: A small number of excellent articles on exercise genomics issues were published in 2012. A new PYGM knock-in mouse model will provide opportunities to investigate the exercise intolerance and very low activity level of people with McArdle disease. New reports on variants in ACTN3 and ACE have increased the level of uncertainty regarding their true role in skeletal muscle metabolism and strength traits. The evidence continues to accumulate on the positive effects of regular physical activity on body mass index or adiposity in individuals at risk of obesity as assessed by their FTO genotype or by the number of risk alleles they carry at multiple obesity-susceptibility loci. The serum levels of triglycerides and the risk of hypertriglyceridemia were shown to be influenced by the interactions between a single nucleotide polymorphism (SNP) in the NOS3 gene and physical activity level. Allelic variation at nine SNPs was shown to account for the heritable component of the changes in submaximal exercise heart rate induced by the HERITAGE Family Study exercise program. SNPs at the RBPMS, YWHAQ, and CREB1 loci were found to be particularly strong predictors of the changes in submaximal exercise heart rate. The 2012 review ends with comments on the importance of relying more on experimental data, the urgency of identifying panels of genomic predictors of the response to regular exercise and particularly of adverse responses, and the exciting opportunities offered by recent advances in our understanding of the global architecture of the human genome as reported by the Encyclopedia of DNA Elements project.

1Department of Kinesiology, Laval University, Ste-Foy, Québec, CANADA; 2Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 3Department of Kinesiology, School of Public Health, University of Maryland, College Park, MD; 4The Genetics of Obesity and Related Metabolic Traits Program, The Charles Bronfman Institute of Personalized Medicine, Mindich Child Health and Development Institute, The Ichan School of Medicine at Mount Sinai, New York, NY; 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 Road, Baton Rouge, LA 70808-4124; E-mail: bouchac@pbrc.edu.

Submitted for publication January 2013.

Accepted for publication February 2013.

©2013The American College of Sports Medicine