The Human Gene Map for Performance and Health-Related Fitness Phenotypes: The 2005 Update

RANKINEN, TUOMO1; BRAY, MOLLY S.2; HAGBERG, JAMES M.3; PÉRUSSE, LOUIS4; ROTH, STEPHEN M.3; WOLFARTH, BERND5; BOUCHARD, CLAUDE1

Medicine & Science in Sports & Exercise:
doi: 10.1249/01.mss.0000233789.01164.4f
Special Report
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.

Author Information

1Human Genomics Laboratory, Pennington Biomedical Research Center, Baton Rouge, LA; 2Children's Nutrition Research Center, Baylor College of Medicine, Houston, TX; 3Department of Kinesiology, College of Health and Human Performance, University of Maryland, College Park, MD; 4Division of Kinesiology, Department of Preventive Medicine, Laval University, Ste-Foy, Québec, CANADA; and 5Preventive and Rehabilitative Sports Medicine, Technical University Munich, Munich, GERMANY

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.

©2006The American College of Sports Medicine