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The ACE gene and human performance: 12 years on
Zudin Puthucheary1, James R A Skipworth, Jai Rawal
1University College London Institute for Human Health and Performance, London, UK. zudin.puthucheary.09@ucl.ac.uk
Sports Medicine (Auckland, N.Z.)
|May 28, 2011
Summary
The angiotensin I-converting enzyme (ACE) gene insertion/deletion (I/D) polymorphism significantly impacts human physical performance, with the I allele linked to endurance and the D allele to strength. Further research is needed to explore underlying mechanisms.
Area of Science:
- Human Genetics
- Sports Science
- Physiology
Background:
- The renin-angiotensin system (RAS) plays a crucial role in physiological functions.
- Polymorphisms within RAS components, particularly the angiotensin I-converting enzyme (ACE) gene, are linked to human physical performance.
- The ACE insertion/deletion (I/D) polymorphism is the most studied genetic variant influencing athletic capabilities.
Purpose of the Study:
- To review the association between the ACE gene polymorphism and various aspects of human physical performance.
- To explore the influence of ACE genotype on endurance, strength, power, cardiac function, skeletal muscle adaptation, and metabolic efficiency.
- To discuss potential underlying mechanisms and related genetic factors.
Main Methods:
- Literature review of studies investigating the ACE I/D polymorphism and its correlation with athletic performance.
- Analysis of associations across different populations and types of physical exertion (endurance, strength, power).
- Examination of ACE genotype effects on physiological parameters like cardiac mass, skeletal muscle strength gains, and metabolic efficiency.
Main Results:
- The I allele is consistently associated with endurance performance (e.g., triathlons) and increased metabolic efficiency (e.g., elite mountaineers).
- The D allele is linked to strength and power-oriented performance (e.g., elite swimmers) and greater strength gains in skeletal muscle.
- ACE genotype influences cardiac muscle adaptations, with the D allele showing an exaggerated response to training and the I allele a lower response.
Conclusions:
- The ACE I/D polymorphism is a significant determinant of sporting phenotype, influencing endurance and strength-related activities.
- Related polymorphisms, such as in the bradykinin 2 receptor gene, also impact endurance performance and metabolic efficiency.
- While ACE genotype is important, it is one factor among many, and the precise mechanisms require further investigation.
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