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

Abstract

This update of the human gene map for physical performance and health-related fitness phenotypes covers the research advances reported in 2006 and 2007. The genes and markers with evidence of association or linkage with a performance or a fitness phenotype in sedentary or active people, in responses to acute exercise, or for training-induced adaptations are positioned on the map of all autosomes and sex chromosomes. Negative studies are reviewed, but a gene or a locus must be supported by at least one positive study before being inserted on the map. A brief discussion on the nature of the evidence and on what to look for in assessing human genetic studies of relevance to fitness and performance is offered in the introduction, followed by a review of all studies published in 2006 and 2007. The findings from these new studies are added to the appropriate tables that are designed to serve as the cumulative summary of all publications with positive genetic associations available to date for a given phenotype and study design. The fitness and performance map now includes 214 autosomal gene entries and quantitative trait loci plus seven others on the X chromosome. Moreover, there are 18 mitochondrial genes that have been shown to influence fitness and performance phenotypes. Thus,the map is growing in complexity. Although the map is exhaustive for currently published accounts of genes and exercise associations and linkages, there are undoubtedly many more gene-exercise interaction effects that have not even been considered thus far. Finally, it should be appreciated that most studies reported to date are based on small sample sizes and cannot therefore provide definitive evidence that DNA sequence variants in a given gene are reliably associated with human variation in fitness and performance traits.

Genes and the ageing muscle: a review on genetic association studies

“…A large number of candidate genes have been studied to identify potential statistical associations with muscle-related phenotypes in a wide range of population groups of varying ages (Bray et al 2009). Some of the studied genetic variations could be also associated with muscle phenotypes in the elderly.…”

“…The ACE I/D polymorphism is arguably the most widely studied genetic variation with regards to physical fitness phenotypes in humans, with controversial results (Bray et al 2009). Published findings are also controversial in older people, starting with the possible association between this polymorphism and muscle mass.…”

Comprehensive fine mapping of chr12q12-14 and follow-up replication identify activin receptor 1B (ACVR1B) as a muscle strength gene

“…The 'Human gene map for performance and health-related fitness phenotypes' 7 indicates that only a limited number of genes has been implicated in muscle strength and even fewer associations have consistently been replicated. Genetic linkage studies regarding muscle strength are even scarcer.…”

Kondicioni trening u svijetlu najnovijih naučnih saznanja // Physical Conditioning Training in the Light of the Latest Scientific Knowledge

“…A very complex mappings lasts and new researches are permanently being carried out, although the assumption of some concepts of a genetic map of elite athletes is partly determined and presented in many scientifi c works (Williams and Folland, 2008;Bray et al, 2009;Bouchard and Hoffman, 2011).…”