The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2003 Update

RANKINEN, T., L. PÉRUSSE, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and C. BOUCHARD. The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2003 Update. Med. Sci. Sports Exerc., Vol. 36, No. 9, pp. 1451–1469, 2004. This review presents the 2003 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 2003 and includes association studies with candidate genes, genome-wide scans with polymorphic markers, and single-gene defects causing exercise intolerance to variable degrees. 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, 29 loci were depicted on the first edition of the map. In contrast, the 2003 human gene map for physical performance and health-related phenotypes includes 109 autosomal gene entries and QTL, plus two on the X chromosome. Moreover, there are 15 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes.