Distribution of Alpha-Actinin-3 (ACTN3) rs1815739 Polymorphism in HADO Athletes

Authors : Beste Tacal Aslan, Dudu Banu Yozgatlı, Özlem Özge Yılmaz, Tolga Polat, Rıdvan Ekmekçi, Korkut Ulucan

Pages : 64-71

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Publication Date : 2024-12-26

Article Type : Research Paper

Abstract :There is growing interest in studying the genetic profile of high-performing athletes and how these genetic factors impact their athletic abilities. ACTN3 is a highly influential gene in determining athletic capabilities. The ACTN3 rs1815739 variant is found on chromosome 11 (11q13.1) and is caused by a switch from cytosine to thymine in exon 16. This study aims to examine the ACTN3 rs1815739 genetic variant in HADO athletes. Eight HADO athletes participated in this study. After isolating DNA from buccal epithelial cells, genotyping was performed using Real-Time PCR (PCR). Genotype distribution among athletes was 4 (50%) CC, 2 (25%) CT, and 2 (25%) TT. In the control group, genotypes were 15 (50%) CC, 8 (26.7%) CT, and 7 (23.3%) TT. There was no significant difference between groups (p=1.000). Allele distribution in athletes was 10 (62.5%) C and 6 (37.5%) T, while the control group had 38 (63.3%) C and 22 (36.7%) T alleles. The statistical comparison showed no significant difference (p=0.951). The results showed that the CC genotype was higher compared to the CT and TT genotypes. At the same time, the C allele was also found. percent higher than the T allele. Research has shown that the C allele is associated with sprinting/strength sports. This is the first study of athletic performance in HADO athletes.
Keywords : ACTN3, HADO, polimorfizm, spor genetiği