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Title: The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update

Author
item BRAY, MOLLY - Children'S Nutrition Research Center (CNRC)
item HAGBERG, JAMES - University Of Maryland
item PERUSSE, LOUIS - Laval University
item RANKINEN, TUOMO - Pennington Biomedical Research Center
item ROTH, STEPHEN - University Of Maryland
item WOLFARTH, BERND - Technical University Of Munich
item BOUCHARD, CLAUDE - Pennington Biomedical Research Center

Submitted to: Medical Science Sports Exercise
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: 6/1/2008
Publication Date: 1/1/2009
Citation: Bray, M.S., Hagberg, J.M., Perusse, L., Rankinen, T., Roth, S.M., Wolfarth, B., Bouchard, C. 2009. The human gene map for performance and health-related fitness phenotypes: The 2006-2007 update. Medical Science Sports Exercise. 41(1):34-72.

Interpretive Summary: This article provides a summary of all published papers in 2006 and 2007 that reported a link between variation in the DNA sequence of a gene and outcomes related to physical activity, physical fitness, or physical response to exercise. This summary adds to the existing list of genes associated with exercise that began in 2003. There are now more than 200 genes identified that are related to exercise and physical activity, and the list is growing. Creating a careful catalog of genes associated with exercise is important for developing a "big picture" view of how genes influence physical activity behavior and response.

Technical 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.