The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2002 Update

PÉRUSSE, L., T. RANKINEN, R. RAURAMAA, M. A. RIVERA, B. WOLFARTH, and CLAUDE BOUCHARD. The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2002 Update. Med. Sci. Sports Exerc., Vol. 35, No. 8, pp. 1248–1264, 2003. This review presents the 2002 update of the human gene map for physical performance and health-related phenotypes. It is based on peer-reviewed papers published by the end of 2002 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 map. The 2001 map includes 71 loci on the autosomes and two on the X chromosome. In contrast, the 2002 human gene map for physical performance and health-related phenotypes includes 90 gene entries and QTL, plus two on the X chromosome. To all these loci, one must add 14 mitochondrial genes in which sequence variants have been shown to influence relevant fitness and performance phenotypes.