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Appears in Collections:Faculty of Health Sciences and Sport Journal Articles
Peer Review Status: Refereed
Title: The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents
Author(s): Moran, Colin Neil
Vassilopoulos, Christos
Tsiokanos, Athanasios
Jamurtas, Athanasios Z
Bailey, Mark E S
Montgomery, Hugh
Wilson, Richard H
Pitsiladis, Yannis P
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Keywords: angiotensin I-converting enzyme
I/D polymorphism
physical performance
Issue Date: Mar-2006
Date Deposited: 17-May-2013
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.
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.
DOI Link: 10.1038/sj.ejhg.5201550
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