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Advances in Exercise, Fitness, and Performance Genomics


Medicine & Science in Sports & Exercise: May 2010 - Volume 42 - Issue 5 - p 835-846
doi: 10.1249/MSS.0b013e3181d86cec
Special Report

An annual review publication of the most significant articles in exercise, fitness, and performance genomics begins with this article, which covers 2 yr, 2008 and 2009. The review emphasizes the strongest articles 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. With this avowed focus on the highest quality articles, only a small number of published articles are reviewed. Among the most significant findings reported here are a brief overview of the first genome-wide association study of the genetic differences between exercisers and nonexercisers. In addition, the latest results on the actinin alpha 3 (ACTN3) R577X nonsense polymorphism are reviewed, emphasizing that no definitive conclusion can be reached at this time. Recent studies that have dealt with mitochondrial DNA haplogroups and endurance performance are described. Published reports indicating that physical activity may attenuate the effect of the fat mass and obesity associated (FTO) gene risk allele on body mass index are reviewed. Articles that have tested the contributions of specific genes to the response of glucose and insulin metabolism traits to regular exercise or physical activity level are considered and found to be generally inconclusive at this stage. Studies examining ethnic differences in the response of blood lipids and lipoproteins to exercise training cannot unequivocally relate these to apolipoprotein E (APOE) genotypes. Hemodynamic changes with exercise training were reported to be associated to sequence variation in kinesin heavy chain (KIF5B), but no replication study is available as of yet. We conclude from this first installment that exercise scientists need to prioritize high-quality research designs and that replication studies with large sample sizes are urgently needed.

1Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 2Department of Kinesiology, School of Public Health, University of Maryland, College Park, MD; 3Department of Epidemiology, Heflin Center for Genomic Sciences, Clinical Nutrition Center, University of Alabama at Birmingham, Birmingham, AL; 4Medical Research Council Epidemiological Unit, Institute of Metabolic Science, Cambridge, UNITED KINGDOM; 5Division of Kinesiology, Department of Preventive Medicine, Laval University, Ste-Foy, Québec, CANADA; and 6Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, GERMANY

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

Submitted for publication January 2010.

Accepted for publication February 2010.

©2010The American College of Sports Medicine