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Citation

Moran CN, Vassilopoulos C, Tsiokanos A, Jamurtas AZ, Bailey MES, Montgomery H, Wilson RH & Pitsiladis YP (2006) The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents. European Journal of Human Genetics, 14 (3), pp. 332-339. https://doi.org/10.1038/sj.ejhg.5201550

Abstract
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 1027 teenage Greeks. We show that there is a strong association (P less than 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.

Keywords
angiotensin I-converting enzyme; I/D polymorphism; physical performance; haplotype; adolescents; caucasians

Journal
European Journal of Human Genetics: Volume 14, Issue 3