The α-actinin-3 (ACTN3) gene rs1815739 (C/T, R577X) polymorphism is a variant frequently associated with athletic performance among different populations. However, there is limited research on the impact of this variant on athlete status and physical performance in basketball players. Therefore, the aim of this study was twofold: (1) to determine the association of ACTN3 rs1815739 polymorphism with changes in physical performance in response to six weeks of training in elite basketball players using 30 m sprint and Yo-Yo Intermittent Recovery Test Level 2 (IR 2) tests, and (2) to compare ACTN3 genotype and allelic frequencies between elite basketball players and controls. The study included a total of 363 individuals, comprising 101 elite basketball players and 262 sedentary individuals. Genomic DNA was isolated from oral epithelial cells or leukocytes, and genotyping was performed by real-time PCR using KASP genotyping method or by microarray analysis. We found that the frequency of the ACTN3 rs1815739 XX genotype was significantly lower in basketball players compared to controls (10.9 vs. 21.4%, p = 0.023), suggesting that RR/RX genotypes were more favorable for playing basketball. Statistically significant (p = 0.045) changes were observed in Yo-Yo IRT 2 performance measurement tests in basketball players with the RR genotype only. In conclusion, our findings suggest that the carriage of the ACTN3 rs1815739 R allele may confer an advantage in basketball.

Department of Medical Genetics Faculty of Medicine Gazi University 06560 Ankara Türkiye

Department of Medical Genetics Near East University Nicosia 99138 Cyprus

Department of Molecular Biology and Genetics Federal Research and Clinical Center of Physical Chemical Medicine of Federal Medical Biological Agency 119435 Moscow Russia

Department of Physical Education and Sport Faculty of Education University of West Bohemia 30100 Pilsen Czech Republic

Department of Physical Education Plekhanov Russian University of Economics 115093 Moscow Russia

DESAM Institute Near East University Nicosia 99138 Cyprus

Laboratory of Genetics of Aging and Longevity Kazan State Medical University 420012 Kazan Russia

Physical Education and Sports Teaching Department Kazim Karabekir Faculty of Education Ataturk University 25240 Erzurum Türkiye

Research Institute for Sport and Exercise Sciences Liverpool John Moores University Liverpool L3 5AF UK

Research Institute of Physical Culture and Sport Volga Region State University of Physical Culture Sport and Tourism 420138 Kazan Russia

Sports Science Faculty Bingol University 12000 Bingol Türkiye

Sports Science Faculty Lokman Hekim University 06510 Ankara Türkiye

Vocational School of Health Services Ataturk University 25240 Erzurum Türkiye

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