ACTN3 polymorphism prevalence in general population of six Balkan countries

Abstract

The aim of this study was to investigate the prevalence of RR, RX and XX genotypes of rs1815739 single nucleotide polymorphism of ACTN3 gene in general population of six Balkan countries. This SNP is currently thought to give genetic predisposition for advantageous sport performance, with its R allele positively correlating with better performance in strength/power sports, and X allele being present in higher frequency in elite athletes in endurance disciplines. A total of 483 individuals (281 males and 202 females) from seven populations from six countries was tested. Samples were collected by buccal swabbing method, DNA was isolated according to salting-out protocol and genotyping was performed using PCR and RFLP analysis. Obtained results suggest that RR and RX genotypes (43.7% and 44.1%, respectively) are overrepresented when compared to XX genotype (12.2%). The XX genotype in the study samples is present in lower frequency when compared to the global (16-18%) and European (18%) average. This study reports the first population data on genotype prevalence in sports-related genes for this part of Europe and is the beginning of research interests that intend to investigate genetic predispositions of elite athletes from this region competing internationally in different disciplines.

ACTN3 Genotypes and Their Relationship with Muscle Mass and Function of Kosovan Adults

“…This underrepresentation below the reference latitude populations opens a gap for further discussion within the field. This is important especially since the allelic frequencies from our study (0.68 and 0.32 for the R and X alleles, respectively) are comparable to other European (0.58 and 0.42, respectively) [47] and Balkan populations (from 0.59 and 0.41 in Serbia, 0.66 and 0.34 in Albania, to 0.79 and 0.21 in Montenegro) [46]. A factor that seems to be very specific for Kosovo and could be an important factor for genetic studies, is the fact that compared to neighboring countries-such as Albania, Macedonia, and Serbia-Kosovo has had among the lowest number of immigrants in South East Europe.…”

“…Nevertheless, our findings are consistent with a prevalence study from six neighboring Balkan countries. Even though a relatively small number of participants (total n = 483) have been genotyped, a generally lower representation of the ACTN3 XX genotype, varying from 6.0% in North Macedonia, 6.7% in Montenegro, 12.5% in Albania, 13.1% in Croatia, 13.6% in Serbia, and 17.7% in Bosnia and Herzegovina has been confirmed [46]. From these, North Macedonia, Montenegro, Albania, and Serbia are land bordered with Kosovo.…”

Total Genotype Score Modelling of Polygenic Endurance-Power Profiles in Lithuanian Elite Athletes

“…In these situations, a data-driven modelling of the TGS may produce more accurate results because it captures features of a particular dataset that makes it different from others. In our study, through the data-driven TGS modelling we identified and described differences in genotype effects on the power and endurance traits between male and female athletes, that also were noted by other researchers [ 29 ].…”

“…They also may differ in distributions of genotypes of gene markers of physical performance. For example, gender effects with respect to ACTN3 were noted in a study of athletes of six Balkan populations [ 29 ]. The XX genotype was twice prevalent in males than females (15.7% vs. 7.4%).…”