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

Demirci, B, Bulgay, C, Ceylan, Hİ, Öztürk, ME, Öztürk, D, Kazan, HH, Ergun, MA, Cerit, M, Semenova, EA, Larin, AK, Generozov, EV, Ahmetov, II and Cepicka, L (2023) Association of ACTN3 R577X Polymorphism with Elite Basketball Player Status and Training Responses. Genes, 14 (6). ISSN 2073-4425

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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.

Item Type: Article
Uncontrolled Keywords: Yo-Yo IR 2; athletes; genotype; physical performance; rs1815739; Humans; Actinin; Basketball; Polymorphism, Genetic; Gene Frequency; Genotype; 0604 Genetics
Subjects: R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions: Sport & Exercise Sciences
Publisher: MDPI AG
SWORD Depositor: A Symplectic
Date Deposited: 04 Jul 2023 11:39
Last Modified: 04 Jul 2023 11:45
DOI or ID number: 10.3390/genes14061190
URI: https://researchonline.ljmu.ac.uk/id/eprint/20215
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