Relating fitness phenotypes to genotypes in Lithuanian elite athletes

Valentina Ginevičienė,Erinija Pranckevičienė,Kazys Milašius,Vaidutis Kučinskas

doi:10.15388/amed.2010.21693

Valentina Ginevičienė, Erinija Pranckevičienė + Show 2 more

Open Access

https://doi.org/10.15388/amed.2010.21693

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Abstract

Background. We aim to link fitness-related genotypes to the development of specific physical fitness phenotypes and a predisposition towards a specific sport category in Lithuanian elite athletes. Materials and methods. The study involved 193 athletes (152 male and 41 female) and 250 controls. The athletes were stratified into four groups: endurance, mixed sports, speed / power, and team sports. Genotypes of the athletes were identified according to the genetic polymorphisms: ACE (rs1799752), ACTN3 (rs1815739), PPARGC1A (rs8192678) and PPARA (rs4253778). One-way analysis of variance and logistic regression modelling were used for testing the genotype–phenotype association. Results. The frequency of ACE I allele was higher in athletes than in controls, although only male athletes showed a significant difference from male controls. The PPARA C allele was more common in the athlete group than in the general population of Lithuania. There were no significant ACTN3 and PPARGC1A SNP allele / genotype frequency differences between the athlete group and the controls. We have found that the ACTN3 RR genotype is associated with single muscular contraction power; the PPARGC1A Ser482Ser was associated with the muscle fat mass index; the PPARA CC and ACE II genotypes are associated with the muscle mass and single muscular contraction power. The effect of the gene variants was different for male and female athletes. Conclusions. The ACE II, PPARA CC, ACTN3 RR genotypes are related to the speed/power sports and the ACE DD, PPARA GG are related to the endurance sports in Lithuanian athletes. PPARGC1A Ser482Ser may be not critical but rather additive to endurance performance. Keywords: physical performance, ACE, ACTN3, PPARGC1A and PPARA genetic variants, sport category

Highlights

Physical performance is a quantitative multi-factorial inherited trait in which a phenotypic expression is influenced by both multiple genes and environmental factors
A great number of genes and genetic markers have been already reported, showing the association with physical performance phenotypes and health-related good fitness, our aim is to provide the reader with the knowledge about the importance of angiotensin-1-coverting enzyme (ACE), Actinin 3 (ACTN3), PPARGC1A and PPARA genetic variants to phenotypes associated with physical performance in Lithuanian elite athletes
In males with the ACE II genotype it can be associated with a higher speed / power capacity because the required high alactic muscular power (AAMP) values in the speed / power sports are characteristic of this genotype

Summary

Introduction

Physical performance is a quantitative multi-factorial inherited trait in which a phenotypic expression is influenced by both multiple genes and environmental factors. Many studies have attempted to find the candidate genes that influence human physical performance [1]. The phenotypes of physical performance with a suspected genetic basis include endurance capacity, muscle performance, ability of tendons and ligaments to resist the effect of injury, and Genetic variants. The disparities in human physical performance can be explained by differences in genetic makeup and environmental variation [3, 4]. We aim to link fitness-related genotypes to the development of specific physical fitness phenotypes and a predisposition towards a specific sport category in Lithuanian elite athletes

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