Key result
The ACTN3 rs1815739 RR and RX genotypes were prevalent at 43.7% and 44.1% respectively in six Balkan countries, with the XX genotype (12.2%) lower than the global and European averages.
Cross-Sectional (n=483)
Yes
The XX genotype of the ACTN3 gene is present in a lower frequency in the Balkan population compared to the global and European averages.
Balkan ACTN3 frequencies differ from global norms; extends population genetics data but leaves open clinical or performance relevance.
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.
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Konaklı et al. (2017) conducted a cross-sectional in General population (n=483). ACTN3 rs1815739 polymorphism was evaluated on Prevalence of RR, RX and XX genotypes of rs1815739 single nucleotide polymorphism of ACTN3 gene. The ACTN3 rs1815739 RR and RX genotypes were prevalent at 43.7% and 44.1% respectively in six Balkan countries, with the XX genotype (12.2%) lower than the global and European averages.
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