Related Experiment Video
Updated: Jun 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
Is there an ACE ID - ACTN3 R577X polymorphisms interaction that influences sprint performance?
1Zinman College of Physical Education and Sports Sciences at the Wingate Institute, Genetics and Molecular Biology, Netanya, Israel. eynon@wincol.ac.il
Sprint performance is linked to specific gene variations. The ACTN3 RR genotype with the ACE I allele, and the ACE II genotype with the ACTN3 R allele, are associated with being a sprinter.
Area of Science:
- Genetics
- Sports Science
- Human Performance
Background:
- The alpha-actinin-3 (ACTN3) R577X polymorphism and the angiotensin converting enzyme (ACE) ID polymorphism are known to influence athletic performance.
- Understanding the combined effects of these genetic variations on sprint ability is crucial for sports science research.
Purpose of the Study:
- To investigate the association between ACTN3 R577X and ACE ID gene polymorphisms and sprint performance in Israeli athletes.
- To determine if specific genotype combinations predict sprint ability.
Main Methods:
- Case-control study involving 81 sprinters and 240 healthy controls.
- Genotyping for ACTN3 R577X (rs1815739) and ACE ID (rs5186) polymorphisms.
- Statistical analysis including odds ratios and confidence intervals to assess genotype-phenotype associations.
Main Results:
- The ACE II genotype combined with the ACTN3 R allele showed a significant association with sprinters compared to controls (P=0.003).
- The ACTN3 RR genotype combined with the ACE I allele also showed a significant association with sprinters (P=0.001).
- Individuals with ACTN3 RR + ACE I allele (OR 2.67) and ACE II + ACTN3 R allele (OR 3.57) had a significantly higher probability of being sprinters.
Conclusions:
- Specific combinations of ACTN3 R577X and ACE ID genotypes are associated with sprint ability.
- These genotype combinations increase the likelihood of an individual being a sprinter but do not correlate with the elite level of performance.
Related Concept Videos
Pharmacogenetics of Drug Targets: β₂-Adrenergic Receptors, Apo E, Thymidylate Synthase
Multiple Allele Traits
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Transporters: P-Glycoprotein and Solute Carrier Transporters
Pharmacogenetics of Phase II Enzymes: N-acetyltransferase, Thiopurine S-methyltransferase, UDP-glucuronosyltransferase
Epistasis Analysis
