Submitted to: Medicine and Science in Sports and Exercise
Publication Type: Review article
Publication Acceptance Date: 5/26/2006
Publication Date: 11/7/2006
Citation: Rankinen, T., Bray, M.S., Hagberg, J.M., Perusse, L., Roth, S.M., Wolfarth, B., Bourchard, C. 2006. The human gene map for performance and health-related fitness phenotypes: The 2005 update. Medicine and Science in Sports and Exercise. 38(11):1863-1888. Interpretive Summary: Since the year 2000, Bouchard and colleagues have catalogued all studies that have investigated the effects of genes on exercise-related outcomes or that have been analyzed in the context of exercise and physical activity. This paper summarizes all such research through the end of 2005. The genes and DNA sequence markers thought to be associated with a performance or fitness trait in sedentary or active people, in adaptation to acute exercise, or for training-induced changes have been placed on the map of all human chromosomes. By the end of 2000, in the early version of the gene map, 29 different gene variants were identified as being related to exercise and/or physical activity. In contrast, the 2005 human gene map for physical performance and health-related traits includes 170 gene entries. Thus, the map is growing. Nevertheless, progress is slow in the field of genetics of fitness and performance, primarily because not many scientists are focusing on this area of research.
Technical Abstract: The current review presents the 2005 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 2005. 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. By the end of 2000, in the early version of the gene map, 29 loci were depicted. In contrast, the 2005 human gene map for physical performance and health-related phenotypes includes 165 autosomal gene entries and QTL, plus five others on the X chromosome. Moreover, there are 17 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes. Thus, the map is growing in complexity. Unfortunately, progress is slow in the field of genetics of fitness and performance, primarily because the number of laboratories and scientists focused on the role of genes and sequence variations in exercise-related traits continues to be quite limited.