Dataset Information

Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position.

ABSTRACT: We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front five, back row, half backs, centers, and back three. Controls were 710 Caucasian men and women. Real-time PCR of genomic DNA was used to determine genotypes using TaqMan probes and groups were compared using ?(2) and odds ratio (OR) statistics. Correction of P values for multiple comparisons was according to Benjamini-Hochberg. There was no difference in ACE I/D genotype between groups. ACTN3 XX genotype tended to be underrepresented in rugby union backs (15.7%) compared with forwards (24.8%, P = 0.06). Interestingly, the 69 back three players (wings and full backs) in rugby union included only six XX genotype individuals (8.7%), with the R allele more common in the back three (68.8%) than controls (58.0%; ?(2) = 6.672, P = 0.04; OR = 1.60) and forwards (47.5%; ?(2) = 11.768, P = 0.01; OR = 2.00). Association of ACTN3 R577X with playing position in elite rugby union athletes suggests inherited fatigue resistance is more prevalent in forwards, while inherited sprint ability is more prevalent in backs, especially wings and full backs. These results also demonstrate the advantage of focusing genetic studies on a large cohort within a single sport, especially when intrasport positional differences exist, instead of combining several sports with varied demands and athlete characteristics.

SUBMITTER: Heffernan SM

PROVIDER: S-EPMC4929273 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature

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Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position.

Heffernan S M SM Kilduff L P LP Erskine R M RM Day S H SH McPhee J S JS McMahon G E GE Stebbings G K GK Neale J P H JP Lockey S J SJ Ribbans W J WJ Cook C J CJ Vance B B Raleigh S M SM Roberts C C Bennett M A MA Wang G G Collins M M Pitsiladis Y P YP Williams A G AG

Physiological genomics 20160112 3

We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohort consisted of 507 Caucasian men, including 431 rugby union athletes that for some analyses were divided into backs and forwards and into specific positional groups: front five, back row, half backs, centers, and back three. Controls were 710 Caucasian men and women. Real-t ...[more]

PMID: 26757799

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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:A number of studies have used GPS technology to categorise rugby union locomotive demands. However, the utility of the results of these studies is confounded by small sample sizes, sub-elite player status and the global application of absolute speed thresholds to all player positions. Furthermore, many of these studies have used GPS units with low sampling frequencies. The aim of the present study was to compare and contrast the high speed running (HSR) demands of professional rugby union when utilizing micro-technology units sampling at 10 Hz and applying relative or individualised speed zones. The results of this study indicate that application of individualised speed zones results in a significant shift in the interpretation of the HSR demands of both forwards and backs and positional sub-categories therein. When considering the use of an absolute in comparison to an individualised HSR threshold, there was a significant underestimation for forwards of HSR distance (HSRD) (absolute = 269 ± 172.02, individualised = 354.72 ± 99.22, p < 0.001), HSR% (absolute = 5.15 ± 3.18, individualised = 7.06 ± 2.48, p < 0.001) and HSR efforts (HSRE) (absolute = 18.81 ± 12.25; individualised = 24.78 ± 8.30, p < 0.001). In contrast, there was a significant overestimation of the same HSR metrics for backs with the use of an absolute threshold (HSRD absolute = 697.79 ± 198.11, individualised = 570.02 ± 171.14, p < 0.001; HSR% absolute = 10.85 ± 2.82, individualised = 8.95 ± 2.76, p < 0.001; HSRE absolute = 41.55 ± 11.25; individualised = 34.54 ± 9.24, p < 0.001). This under- or overestimation associated with an absolute speed zone applies to varying degrees across the ten positional sub-categories analyzed and also to individuals within the same positional sub-category. The results of the present study indicated that although use of an individulised HSR threshold improves the interpretation of the HSR demands on a positional basis, inter-individual variability in maximum velocity within positional sub-categories means that players need to be considered on an individual basis to accurately gauge the HSR demands of rugby union.

Dataset Information

Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position.

Publications

Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position.

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