Document Detail

The ACE gene and human performance: 12 years on.
MedLine Citation:
PMID:  21615186     Owner:  NLM     Status:  MEDLINE    
Some 12 years ago, a polymorphism of the angiotensin I-converting enzyme (ACE) gene became the first genetic element shown to impact substantially on human physical performance. The renin-angiotensin system (RAS) exists not just as an endocrine regulator, but also within local tissue and cells, where it serves a variety of functions. Functional genetic polymorphic variants have been identified for most components of RAS, of which the best known and studied is a polymorphism of the ACE gene. The ACE insertion/deletion (I/D) polymorphism has been associated with improvements in performance and exercise duration in a variety of populations. The I allele has been consistently demonstrated to be associated with endurance-orientated events, notably, in triathlons. Meanwhile, the D allele is associated with strength- and power-orientated performance, and has been found in significant excess among elite swimmers. Exceptions to these associations do exist, and are discussed. In theory, associations with ACE genotype may be due to functional variants in nearby loci, and/or related genetic polymorphism such as the angiotensin receptor, growth hormone and bradykinin genes. Studies of growth hormone gene variants have not shown significant associations with performance in studies involving both triathletes and military recruits. The angiotensin type-1 receptor has two functional polymorphisms that have not been shown to be associated with performance, although studies of hypoxic ascent have yielded conflicting results. ACE genotype influences bradykinin levels, and a common gene variant in the bradykinin 2 receptor exists. The high kinin activity haplotye has been associated with increased endurance performance at an Olympic level, and similar results of metabolic efficiency have been demonstrated in triathletes. Whilst the ACE genotype is associated with overall performance ability, at a single organ level, the ACE genotype and related polymorphism have significant associations. In cardiac muscle, ACE genotype has associations with left ventricular mass changes in response to stimulus, in both the health and diseased states. The D allele is associated with an exaggerated response to training, and the I allele with the lowest cardiac growth response. In light of the I-allele association with endurance performance, it seems likely that other regulatory mechanisms exist. Similarly in skeletal muscle, the D allele is associated with greater strength gains in response to training, in both healthy individuals and chronic disease states. As in overall performance, those genetic polymorphisms related to the ACE genotype, such as the bradykinin 2 gene, also influence skeletal muscle strength. Finally, the ACE genotype may influence metabolic efficiency, and elite mountaineers have demonstrated an excess of I alleles and I/I genotype frequency in comparison to controls. Interestingly, this was not seen in amateur climbers. Corroboratory evidence exists among high-altitude settlements in both South America and India, where the I allele exists in greater frequency in those who migrated from the lowlands. Unfortunately, if the ACE genotype does influence metabolic efficiency, associations with peak maximal oxygen consumption have yet to be rigorously demonstrated. The ACE genotype is an important but single factor in the determinant of sporting phenotype. Much of the mechanisms underlying this remain unexplored despite 12 years of research.
Zudin Puthucheary; James R A Skipworth; Jai Rawal; Mike Loosemore; Ken Van Someren; Hugh E Montgomery
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Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Sports medicine (Auckland, N.Z.)     Volume:  41     ISSN:  1179-2035     ISO Abbreviation:  Sports Med     Publication Date:  2011 Jun 
Date Detail:
Created Date:  2011-05-27     Completed Date:  2011-09-13     Revised Date:  2013-05-16    
Medline Journal Info:
Nlm Unique ID:  8412297     Medline TA:  Sports Med     Country:  New Zealand    
Other Details:
Languages:  eng     Pagination:  433-48     Citation Subset:  IM    
University College London Institute for Human Health and Performance, London, UK.
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MeSH Terms
Athletic Performance / physiology
Exercise / physiology*
Muscle, Skeletal / physiology
Peptidyl-Dipeptidase A / genetics*
Physical Endurance / genetics*
Polymorphism, Genetic
Renin-Angiotensin System / genetics*
Reg. No./Substance:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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