Association analysis of ACE, ACTN3 and PPARGC1A gene polymorphisms in two cohorts of European strength and power athletes

Abstract

The performance of professional strength and power athletes is influenced, at least partly, by genetic components. The main aim of this study was to investigate individually and in combination the association of ACE (I/D), ACTN3 (R577X) and PPARGC1A (Gly482Ser) gene polymorphisms with strength/power-oriented athletes’ status in two cohorts of European athletes. A cohort of European Caucasians from Russia and Lithuania (161 athletes: by groups – weightlifters (87), powerlifters (60), throwers (14); by elite status – ‘elite’ (104), ‘sub-elite’ (57); and 1,202 controls) were genotyped for ACE, ACTN3 and PPARGC1A polymorphisms. Genotyping was performed by polymerase chain reaction and/or restriction fragment length polymorphism analysis. Statistically significant differences in ACTN3 (R577X) allele/genotype distribution were not observed in the whole cohort of athletes or between analysed groups separately when compared with controls. The odds ratio for athletes compared to controls of the ACE I/I genotype was 1.71 (95% CI 1.01-2.92) in the Russian cohort and for the ACE I/D genotype it was 2.35 (95% CI 1.10-5.06) in the Lithuanian cohort. The odds ratio of being a powerlifter in PPARGC1A Ser/Ser genotype carriers was 2.11 (95% CI: 1.09-4.09, P = 0.026). The ACTN3 (R577X) polymorphism is not associated with strength/power athletic status in two cohorts of European athletes. The ACE I/I genotype is probably the ‘preferable genotype’ for Russian athletes and the ACE I/D genotype for Lithuanian strength/power athletes. We found that the PPARGC1A (Gly482Ser) polymorphism is associated with strength/power athlete status. Specifically, the PPARGC1A Ser/Ser genotype is more favourable for powerlifters compared to controls.

ACTN3 polymorphism prevalence in general population of six Balkan countries

“…The studies have been done on different sport disciplines and on athletes of different ethnic backgrounds, making it possible to assess the importance of ACTN3 genotypes on the performance of athletes of different backgrounds. While some studies yield expected results in terms of R allele positively correlating with an extraordinary success in strength/power disciplines and X with endurance disciplines (CHIU et al, 2011;MASSIDDA et al, 2009;PAPADIMITRIOU et al, 2016;SHANG et al, 2010), other studies are giving completely opposite results (for example, a study by MAGI et al, 2016, in which Estonian cross-country skiers were enriched in R allele, although they are performing in an endurance discipline) or did not find any correlation at all (GINEVICIENE et al, 2016;GREALY et al, 2013;MANY et al, 2016;MASSIDDA et al, 2015;YVERT et al, 2016). The present study is serving as groundwork with general population data for seven populations from the Balkan countries to which genotype frequencies from elite sportspersons can be compared in order to assess the importance of the study ACTN3 polymorphism alleles in predisposition for advantageous sport performance.…”

Effect of PPARGC1A Gly428Ser (rs8192678) polymorphism on athletic sports performance: A meta-analysis

“…Initial search resulted in 523 citations, followed by a series of omissions (S2 Table) that eventually yielded 14 articles for inclusion [25-38]. Of the 14, two articles [29, 34] presented independent data from two populations placing the total number of studies to 16 (Table 1).…”

“…Table 1 shows that participants in most of the studies were Euro-Slavic with three (Australia, Japan and Korea) contributing to geographical heterogeneity [30, 32, 38]. Subgroups by sport type and race comprised of power [26, 27, 29, 34, 35], endurance [25-27, 30, 31, 33-36, 38] and mixed [27, 28, 32, 34, 37], Caucasian [25-30, 33-37] and Asian [31, 32, 38], respectively. Median and range CB score of 7.0 (5-9) indicates that methodological quality of the component studies was high.…”

“…The Ser allele has been reported to disfavor endurance activities; in contrast to the Gly allele which was found useful [32, 34]. Other reports, however, indicate the Ser allele as useful in power activities [29].…”

“…We recognize the complexity of SP which involves interactions between genetic and non-genetic factors opening the possibility of environmental involvement in modifying Gly482Ser effects. Gene-gene and gene-environment interactions have been reported to have roles in associations of PPARGC1A polymorphisms with SP [5, 29]. While all but one [26] of the 11 articles mentioned gene-environment interaction, only two addressed haplotype analysis [25, 34].…”