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

S M Heffernan, L P Kilduff, R M Erskine, S H Day, J S McPhee, Gerard Mc Mahon, G K Stebbings, J P H Neale, S J Lockey, W J Ribbans, C J Cook, B Vance, S M Raleigh, C Roberts, M A Bennett, G Wang, M Collins, Y P Pitsiladis, A G Williams

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Abstract

Heffernan SM, Kilduff LP, Erskine RM, Day SH, McPhee JS,
McMahon GE, Stebbings GK, Neale JPH, Lockey SJ, Ribbans WJ,
Cook CJ, Vance B, Raleigh SM, Roberts C, Bennett MA, Wang G,
Collins M, Pitsiladis YP, Williams AG. Association of ACTN3 R577X but
not ACE I/D gene variants with elite rugby union player status and playing
position. Physiol Genomics 48: 196–201, 2016. First published January 12,
2016; doi:10.1152/physiolgenomics.00107.2015.—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
Original languageEnglish
Pages (from-to)196-201
Number of pages5
JournalPhysical Genomics
DOIs
Publication statusPublished - 12 Jan 2016

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