Copyright @ 2006 by the American College of Sports Medicine. Unauthorized reproduction of this article is prohibited. SPECIAL REPORT The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2005 Update TUOMO RANKINEN 1 , MOLLY S. BRAY 2 , JAMES M. HAGBERG 3 , LOUIS PE ´ RUSSE 4 , STEPHEN M. ROTH 3 , BERND WOLFARTH 5 , and CLAUDE BOUCHARD 1 1 Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 2 Children_s Nutrition Research Center, Baylor College of Medicine, Houston, TX; 3 Department of Kinesiology, College of Health and Human Performance, University of Maryland, College Park, MD; 4 Division of Kinesiology, Department of Preventive Medicine, Laval University, Ste-Foy, Que´bec, CANADA; and 5 Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, GERMANY ABSTRACT RANKINEN, T., M. S. BRAY, J. M. HAGBERG, L. PE ´ RUSSE, S. M. ROTH, B. WOLFARTH, and C. BOUCHARD. The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2005 Update. Med. Sci. Sports Exerc., Vol. 38, No. 11, pp. 1863–1888, 2006. 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. Key Words: CANDIDATE GENES, QUANTITATIVE TRAIT LOCI, LINKAGE, GENETIC VARIANTS, MITOCHON- DRIAL GENOME, NUCLEAR GENOME, GENETICS T his paper constitutes the sixth installment in the series on the human gene map for performance and health-related fitness phenotypes published in this journal. It covers the peer-reviewed literature published by the end of December 2005. The search for relevant publications is primarily based on the journals available in MEDLINE, the National Library of Medicine_s pub- lication database covering the fields of Life Sciences, biomedicine, and health, using a combination of key words (e.g., exercise, physical activity, performance, training, genetics, genotype, polymorphism, mutation, linkage). Other sources include personal reprint collections of the authors and documents made available to us by colleagues who are publishing in this field. The electronic prepubli- cations, that is, articles that are made available on the Web site of a journal before being published in print, are not included in the current review. The goal of the human gene map for fitness and performance is to review all genetic loci and markers shown to be related to physical perfor- mance or health-related fitness phenotypes in at least one study. Negative studies are briefly reviewed for a balanced presentation of the evidence. However, the nonsignificant results are not incorporated in the summary tables. The physical performance phenotypes for which genetic data are available include cardiorespiratory endurance, elite endurance athlete status, muscle strength, other muscle performance traits, and exercise intolerance of variable degrees. Consistent with the previous reviews, the pheno- types of health-related fitness retained are grouped under the following categories: hemodynamic traits including exer- cise heart rate, blood pressure and heart morphology; Address for correspondence: Claude Bouchard, PhD, Human Genomics Laboratory, Pennington Biomedical Research Center, 6400 Perkins Road, Baton Rouge, LA 70808-4124; E-mail: bouchac@pbrc.edu. Submitted for publication April 2006. Accepted for publication May 2006. 0195-9131/06/3811-1863/0 MEDICINE & SCIENCE IN SPORTS & EXERCISE Ò Copyright Ó 2006 by the American College of Sports Medicine DOI: 10.1249/01.mss.0000233789.01164.4f 1863