Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses

Berkay Demirci; Celal Bulgay; Halil İbrahim Ceylan; Mehmet Ertuğrul Öztürk; Deniz Öztürk; Hasan Huseyin Kazan; Mehmet Ali Ergun; Mesut Cerit; Ekaterina A Semenova; Andrey K Larin; Edward V Generozov; Ildus I Ahmetov; Ladislav Cepicka

doi:10.3390/genes14061190

Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses

Genes (Basel). 2023 May 29;14(6):1190. doi: 10.3390/genes14061190.

Authors

Berkay Demirci¹, Celal Bulgay², Halil İbrahim Ceylan³, Mehmet Ertuğrul Öztürk³, Deniz Öztürk⁴, Hasan Huseyin Kazan^{5

6}, Mehmet Ali Ergun⁷, Mesut Cerit¹, Ekaterina A Semenova^{8

9}, Andrey K Larin⁸, Edward V Generozov⁸, Ildus I Ahmetov^{8

10

11

12}, Ladislav Cepicka¹³

Affiliations

¹ Sports Science Faculty, Lokman Hekim University, 06510 Ankara, Türkiye.
² Sports Science Faculty, Bingol University, 12000 Bingol, Türkiye.
³ Physical Education and Sports Teaching Department, Kazim Karabekir Faculty of Education, Ataturk University, 25240 Erzurum, Türkiye.
⁴ Vocational School of Health Services, Ataturk University, 25240 Erzurum, Türkiye.
⁵ Department of Medical Genetics, Near East University, Nicosia 99138, Cyprus.
⁶ DESAM Institute, Near East University, Nicosia 99138, Cyprus.
⁷ Department of Medical Genetics, Faculty of Medicine, Gazi University, 06560 Ankara, Türkiye.
⁸ Department of Molecular Biology and Genetics, Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency, 119435 Moscow, Russia.
⁹ Research Institute of Physical Culture and Sport, Volga Region State University of Physical Culture, Sport and Tourism, 420138 Kazan, Russia.
¹⁰ Laboratory of Genetics of Aging and Longevity, Kazan State Medical University, 420012 Kazan, Russia.
¹¹ Department of Physical Education, Plekhanov Russian University of Economics, 115093 Moscow, Russia.
¹² Research Institute for Sport and Exercise Sciences, Liverpool John Moores University, Liverpool L3 5AF, UK.
¹³ Department of Physical Education and Sport, Faculty of Education, University of West Bohemia, 30100 Pilsen, Czech Republic.

Abstract

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.

Keywords: Yo-Yo IR 2; athletes; genotype; physical performance; rs1815739.

MeSH terms

Actinin* / genetics
Basketball*
Gene Frequency
Genotype
Humans
Polymorphism, Genetic

Substances

Actinin
ACTN3 protein, human

Grants and funding

This research received no external funding.