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United States Department of Agriculture

Agricultural Research Service

Title: The Human Gene Map for Performance and Health-Related Fitness Phenotypes: the 2004 Update

Authors
item Wolfarth, B - TECHNICAL UNIV MUNICH
item Bray, Molly
item Hagberg, J - UNIV MARYLAND
item Perusse, L - LAVAL UNIV, QUEBEC
item Rauramaa, R - UNIV KUOPIO, FINLAND
item Rivera, M - UNIV PUERTO RICO SCH MED
item Roth, S - UNIV MARYLAND
item Rankinen, T - PENNINGTON BIOMED RES CTR
item Bouchard, C - PENNINGTON BIOMED RES CTR

Submitted to: Medicine and Science in Sports and Exercise
Publication Type: Peer Reviewed Journal
Publication Acceptance Date: April 15, 2005
Publication Date: June 30, 2005
Citation: Wolfarth, B., Bray, M.S., Hagberg, J.M., Perusse, L., Rauramaa, R., Rivera, M.A., Roth, S.M., Rankinen, T., Bouchard, C. 2005. The human gene map for performance and health-related fitness phenotypes: the 2004 update. Medicine and Science in Sports and Exercise. 37(6):881-903.

Interpretive Summary: This review presents the 2004 update of the human gene map for physical performance and health-related fitness phenotypes. The gene map is a collection of published results linking exercise and physical activity to a variety of gene DNA sequence variants. It is based on papers published by the end of 2004. The 2004 human gene map for physical performance and health-related phenotypes includes 140 non-sex gene entries, plus four on the X chromosome. Moreover, there are 16 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is becoming more complex and progress is being made. The number of scientists examining the role of genes and sequence variations in exercise-related traits is rising. But exercise science and sports medicine is generally lagging behind in terms of genetic research.

Technical Abstract: We began this series in 2000 with the aim of making available in an easily accessible format all the advances on the genetic basis of a large family of exercise-related traits. The current review presents the 2004 update of the human gene map for physical performance and health-related fitness phenotypes. It is based on peer-reviewed papers published by the end of 2004. The genes and markers with evidence of association or linkage with a performance or fitness phenotype in sedentary or active people, in adaptation to acute exercise, or for training-induced changes are positioned on the genetic map of all autosomes and the X chromosome. Negative studies are reviewed but a gene or locus must be supported by at least one positive study before being inserted on the map. One new feature is that we have incorporated the genes whose sequence variants have been associated with either the level of physical activity or indicators of sedentarism. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2004 human gene map for physical performance and health-related phenotypes includes 140 autosomal gene entries and quantitative trait loci, plus four on the X chromosome. Moreover, there are 16 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity and progress is being made. The number of laboratories and scientists concerned by the role of genes and sequence variations in exercise-related traits is rising. But exercise science and sports medicine is generally lagging behind in terms of utilizing the advances in genetic and genomic technologies.

Last Modified: 7/28/2014
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