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

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.

SUBMITTER: Demirci B

PROVIDER: S-EPMC10298064 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature

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

Demirci Berkay B Bulgay Celal C Ceylan Halil İbrahim Hİ Öztürk Mehmet Ertuğrul ME Öztürk Deniz D Kazan Hasan Huseyin HH Ergun Mehmet Ali MA Cerit Mesut M Semenova Ekaterina A EA Larin Andrey K AK Generozov Edward V EV Ahmetov Ildus I II Cepicka Ladislav L

Genes 20230529 6

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 basket ...[more]

PMID: 37372374

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Project description:ObjectiveThe special status accorded to elite athletes stems from their uncommon genetic potential to excel in world-class power sports (PS). Genetic polymorphisms have been reported to influence elite PS status. Reports of associations between the α-actinin-3 gene (ACTN3) R577X polymorphism and PS have been inconsistent. In light of new published studies, we perform a meta-analysis to further explore the roles of this polymorphism in PS performance among elite athletes.MethodsMulti-database literature search yielded 44 studies from 38 articles. Pooled odds ratios (ORs) and 95% confidence intervals (CIs) were used in estimating associations (significance threshold was set at Pa ≤ 0.05) using the allele-genotype model (R and X alleles, RX genotype). Outlier analysis was used to examine its impact on association and heterogeneity outcomes. Subgroup analysis was race (Western and Asian) and gender (male/female)-based. Interaction tests were applied to differential outcomes between the subgroups, P-values of which were Bonferroni corrected (Pinteraction BC). Tests for sensitivity and publication bias were performed.ResultsSignificant overall R allele effects (OR 1.21, 95% CI 1.07-1.37, Pa = 0.002) were confirmed in the Western subgroup (OR 1.11, 95% CI 1.01-1.22, Pa = 0.02) and with outlier treatment (ORs 1.12-1.20, 95% CIs 1.02-1.30, Pa < 10-5-0.01). This treatment resulted in acquired significance of the RX effect in Asian athletes (OR 1.91, 95% CI 1.25-2.92, Pa = 0.003). Gender analysis dichotomized the RX genotype and R allele effects as significantly higher in male (OR 1.14, 95% CI 1.02-1.28, Pa = 0.02) and female (OR 1.58, 95% CI 1.21-2.06, Pa = 0.0009) athletes, respectively, when compared with controls. Significant R female association was improved with a test of interaction (Pinteraction BC = 0.03). The overall, Asian and female outcomes were robust. The R allele results were more robust than the RX genotype outcomes. No evidence of publication bias was found.ConclusionsIn this meta-analysis, we present clear associations between the R allele/RX genotype in the ACTN3 polymorphism and elite power athlete status. Significant effects of the R allele (overall analysis, Western and female subgroups) and RX genotype (Asians and males) were for the most part, results of outlier treatment. Interaction analysis improved the female outcome. These robust findings were free of publication bias.

Project description:BackgroundAbility of athletes in speed or endurance contests somehow is determined by inherited muscle fiber types. One of the important genes involved in sport genetics is ACTN3 that is located on chromosome 11q13-q14 and encodes α-actinin-3, which belongs to highly conserved family of α-actinin proteins. Genetic analysis of α-actinin-3 gene has showed a polymorphism R577X (rs1815739), which results in premature stop codon and leads to non functional α-actnin-3 protein. ACTN3 genotype can contribute to the performance in elite and endurance activities. R577X polymorphism replaces arginine by stop codon. Individuals homozygous for R577 have full copy of α-actinin-3 and elite and power sprint athletes show significantly higher frequency of 577R allele. In the other hand, some studies represented that X allele have high level of frequency in endurance athletes. However, this data remains controversial Since there is no information about the frequency of ACTN3 genotype in our population therefore as the first step it is essential to determine the genetic background of Iranian population. The objective of this study was to genotype normal Iranian individuals to determine the prevalence of each allele in our population.MethodsWe used PCR-RFLP method for genotyping 210 normal individuals.ResultsTotal of 210 Iranian normal individuals for distribution of R577X and R alleles were genotyped. The different genotypes were as follow; 24% RR (50/210), 65%RX (136/210) and 11%XX (24/210), with allelic distribution of 0.56 and 0.44 for 577R and 577X alleles of ACTN3.ConclusionThis allelic distribution for Iranian's is more close to Caucasian population, which is concurrent with the route of ancient human's migration from Iran Plateau toward Europe. Our results showed no different patterns of allelic distribution among female and males, which was the same in other studies too, although some differences has been reported in the studies on athletes population.

Project description:BackgroundThe human ACTN3 gene encodes α-actinin-3, an actin-binding protein with a pivotal role in muscle structure and metabolism. A common genetic single nucleotide polymorphism (SNP) at codon 577 of the ACTN3 results in the replacement of an arginine (R) with a stop codon (X). The R allele is a normal functional version of the gene, whereas the X allele contains a sequence change that completely stops production of functional α-actinin-3 protein. The ACTN3 R577X polymorphism was found to be associated with power athletic performance especially among track and field athletes. The aim of the current study was to compare allelic and genotype frequencies of the ACTN3 R577X polymorphism among runners and swimmers specializing in different distances, and >non-athletic controls.MethodsOne hundred and thirty-seven runners, 91 swimmers and 217 controls, participated in the study. Runners were assigned to two subgroups according to their event specialty-long-distance runners (LDR) and short-distance runners (SDR). Swimmers were also assigned to two subgroups according to their main swimming event-long-distance swimmers (LDS) and short-distance swimmers (SDS). Genomic DNA was extracted from peripheral EDTA-treated anti-coagulated blood using a standard protocol. Genotypes were determined using the Taqman allelic discrimination assay.ResultsRunners' genotype and allele differed significantly between LDR, SDR, and controls, with the lowest prevalence of RR genotype and R allele among LDR. XX genotype and X allele prevalence was significantly higher among LDR compared to the other groups (p < 0.01 for all). On the other hand, swimmers' genotype and allele frequencies did not differ significantly between subgroups (LDS and SDS). Yet, LDS had significantly higher RR genotype and R allele frequencies compared to LDR.ConclusionsThe findings suggest that while ACTN3 R577X polymorphism is a genetic polymorphism that may distinguish between SDR and LDR, it cannot differentiate significantly between SDS and LDS.Trial registrationClinicalTrials.gov: NCT01319032.Key pointsACTN3 R577X polymorphism is largely associated with running events specialization, with high prevalence of RR genotype and R allele frequency among short-distance runners compare to long-distance runners.Unlike in running, ACTN3 R577X polymorphism is not associated with swimming specialization.The inability of the ACTN3 R577X polymorphism to distinguish between swimmers specializing in different events, presumably since other factors such as body physique, technique, tactics, etc., are more likely to determine such a distinction.

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

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Association of <i>ACTN3</i> R577X Polymorphism with Elite Basketball Player Status and Training Responses.

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