The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents

C.N. Moran, C. Vassilopoulos, Athanasios Tsiokanos, Athanasios Jamurtas, Mark E.S. Bailey, H. Montgomery, R.H. Wilson, Yannis Pitsiladis

Research output: Contribution to journalArticlepeer-review


Genetic variation in the human Angiotensin I-Converting Enzyme (ACE) gene has been associated with many heritable traits, including physical performance. Herein we report the results of a study of several physical, physiological and skill parameters and lifestyle in 1,027 teenage Greeks. We show that there is a strong association (P < 0.001) between the ACE I/D (insertion/deletion) polymorphism and both handgrip strength and vertical jump in females, homozygotes for the I-allele exhibiting higher performance-related phenotype scores, accounting for up to 4.5% of the phenotypic variance. The association is best explained by a model in which the D-allele is dominant, with the mean phenotypic value in the I/D heterozygotes being close to that of the mean of the DD homozygotes. The association acts across the phenotype distribution in a classical polygenic manner. Other polymorphisms that define major ACE haplotypes in European populations (rs4424958, rs4311) show weaker associations with these performance-related phenotypes than does I/D. Similarly, diplotypes defined by these polymorphisms do not explain significantly larger amounts of the variance than I/D alone. As ACE I/D is the polymorphism most strongly associated with circulating ACE activity in European populations, we propose that the functional allelic differences that influence ACE activity also mediate the associations with the performance-related phenotypes studied here.
Original languageEnglish
Pages (from-to)332-339
Number of pages8
JournalEuropean Journal of Human Genetics
Issue number3
Publication statusPublished - 31 Mar 2006


  • Angiotensin I-converting enzyme
  • I/D polymorphism
  • physical performance
  • haplotype
  • adolescents
  • caucasians


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