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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, SM, Kilduff, LP, Erskine, RM, Day, SH, McPhee, JS, McMahon, GE, Stebbings, GK, Neale, JP, Lockey, SJ, Ribbans, WJ, Cook, CJ, Vance, B, Raleigh, SM, Roberts, C, Bennett, MA, Wang, G, Collins, M, Pitsiladis, YP and Williams, AG (2016) Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position. Physiological Genomics. ISSN 1531-2267

Heffernan_ACE_ACTN3_Rugby_Accepted_2016.pdf - Accepted Version

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We aimed to quantify the ACE I/D and ACTN3 R577X (rs1815739) genetic variants in elite rugby athletes (rugby union and league), 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 Chi-square 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 to 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%; χ(2)=6.672, P=0.04; OR=1.60) and forwards (47.5%; χ(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 intra-sport positional differences exist, instead of combining several sports with varied demands and athlete characteristics.

Item Type: Article
Uncontrolled Keywords: 1116 Medical Physiology
Subjects: R Medicine > RC Internal medicine > RC1200 Sports Medicine
Divisions: Sport & Exercise Sciences
Publisher: American Physiological Society
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Date Deposited: 25 Feb 2016 10:12
Last Modified: 04 Sep 2021 13:22
DOI or ID number: 10.1152/physiolgenomics.00107.2015
URI: https://researchonline.ljmu.ac.uk/id/eprint/2985
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