title: The associations of ACE polymorphisms with physical, physiological and skill parameters in adolescents.
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 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.
authors.affiliation: Institute of Diet, Exercise and Lifestyle, IDEAL, Institute of Biomedical and Life Sciences, University of Glasgow, Glasgow, UK.
authors.forename: Colin N
authors.initials: CN
authors.lastname: Moran
authors.forename: Christos
authors.initials: C
authors.lastname: Vassilopoulos
authors.forename: Athanasios
authors.initials: A
authors.lastname: Tsiokanos
authors.forename: Athanasios Z
authors.initials: AZ
authors.lastname: Jamurtas
authors.forename: Mark E S
authors.initials: ME
authors.lastname: Bailey
authors.forename: Hugh E
authors.initials: HE
authors.lastname: Montgomery
authors.forename: Richard H
authors.initials: RH
authors.lastname: Wilson
authors.forename: Yannis P
authors.initials: YP
authors.lastname: Pitsiladis
mesh_terms: D000293:Adolescent; D000483:Alleles; D000704:Analysis of Variance; D002648:Child; D004247:DNA / Q000378:metabolism; D003627:Data Interpretation, Statistical; D015444:Exercise; D005260:Female; D005838:Genotype; D006115:Greece; D006239:Haplotypes; D006720:Homozygote; D006801:Humans; D008297:Male; D016017:Odds Ratio; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D010641:Phenotype; D010807:Physical Endurance; D011110:Polymorphism, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D004247:DNA; D007703:Peptidyl-Dipeptidase A