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The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2006-2007 Update


Medicine & Science in Sports & Exercise: January 2009 - Volume 41 - Issue 1 - p 34-72
doi: 10.1249/MSS.0b013e3181844179
Basic Sciences

ABSTRACT This update of the human gene map for physical performance and health-related fitness phenotypes covers the research advances reported in 2006 and 2007. The genes and markers with evidence of association or linkage with a performance or a fitness phenotype in sedentary or active people, in responses to acute exercise, or for training-induced adaptations are positioned on the map of all autosomes and sex chromosomes. Negative studies are reviewed, but a gene or a locus must be supported by at least one positive study before being inserted on the map. A brief discussion on the nature of the evidence and on what to look for in assessing human genetic studies of relevance to fitness and performance is offered in the introduction, followed by a review of all studies published in 2006 and 2007. The findings from these new studies are added to the appropriate tables that are designed to serve as the cumulative summary of all publications with positive genetic associations available to date for a given phenotype and study design. The fitness and performance map now includes 214 autosomal gene entries and quantitative trait loci plus seven others on the X chromosome. Moreover, there are 18 mitochondrial genes that have been shown to influence fitness and performance phenotypes. Thus, the map is growing in complexity. Although the map is exhaustive for currently published accounts of genes and exercise associations and linkages, there are undoubtedly many more gene-exercise interaction effects that have not even been considered thus far. Finally, it should be appreciated that most studies reported to date are based on small sample sizes and cannot therefore provide definitive evidence that DNA sequence variants in a given gene are reliably associated with human variation in fitness and performance traits.

1USDA/ARS Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX; 2Department of Kinesiology, School of Public Health, University of Maryland, College Park, MD; 3Division of Kinesiology, Department of Preventive Medicine, Laval University, Ste-Foy, Québec, CANADA; 4Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 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:

Submitted for publication April 2008.

Accepted for publication June 2008.

© 2009 American College of Sports Medicine