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

Research output: Contribution to journalArticle

10 Citations (Scopus)

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
LanguageEnglish
Pages196-201
Number of pages5
JournalPhysical Genomics
DOIs
Publication statusPublished - 12 Jan 2016

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Football
Athletes
Genotype
Genes
Odds Ratio
Sports
Genomics
Fatigue
Real-Time Polymerase Chain Reaction
DNA

Cite this

Heffernan, S M ; Kilduff, L P ; Erskine, R M ; Day, S H ; McPhee, J S ; Mc Mahon, Gerard ; Stebbings, G K ; Neale, J P H ; Lockey, S J ; Ribbans, W J ; Cook, C J ; Vance, B ; Raleigh, S M ; Roberts, C ; Bennett, M A ; Wang, G ; Collins, M ; Pitsiladis, Y P ; Williams, A G. / Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position. In: Physical Genomics. 2016 ; pp. 196-201.
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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 butnot ACE I/D gene variants with elite rugby union player status and playingposition. Physiol Genomics 48: 196–201, 2016. First published January 12,2016; doi:10.1152/physiolgenomics.00107.2015.—We aimed to quantifythe ACE I/D and ACTN3 R577X (rs1815739) genetic variants in eliterugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohortconsisted of 507 Caucasian men, including 431 rugby union athletes thatfor some analyses were divided into backs and forwards and into specificpositional groups: front five, back row, half backs, centers, and backthree. Controls were 710 Caucasian men and women. Real-time PCR ofgenomic DNA was used to determine genotypes using TaqMan probesand groups were compared using 2 and odds ratio (OR) statistics.Correction of P values for multiple comparisons was according toBenjamini-Hochberg. There was no difference in ACE I/D genotypebetween groups. ACTN3 XX genotype tended to be underrepresented inrugby union backs (15.7{\%}) compared with forwards (24.8{\%}, P 0.06).Interestingly, the 69 back three players (wings and full backs) in rugbyunion included only six XX genotype individuals (8.7{\%}), with the Rallele 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 playingposition in elite rugby union athletes suggests inherited fatigue resistanceis more prevalent in forwards, while inherited sprint ability is moreprevalent in backs, especially wings and full backs. These results alsodemonstrate the advantage of focusing genetic studies on a large cohortwithin a single sport, especially when intrasport positional differencesexist, instead of combining several sports with varied demands andathlete characteristics",
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month = "1",
day = "12",
doi = "10.1152/physiolgenomics.00107.2015",
language = "English",
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journal = "Physical Genomics",
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}

Heffernan, SM, Kilduff, LP, Erskine, RM, Day, SH, McPhee, JS, Mc Mahon, G, 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 2016, 'Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position', Physical Genomics, pp. 196-201. https://doi.org/10.1152/physiolgenomics.00107.2015

Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position. / Heffernan, S M; Kilduff, L P; Erskine, R M; Day, S H; McPhee, J S; Mc Mahon, Gerard; Stebbings, G K; Neale, J P H ; Lockey, S J; Ribbans, W J; Cook, C J; Vance, B; Raleigh, S M; Roberts, C; Bennett, M A; Wang, G; Collins, M ; Pitsiladis, Y P; Williams, A G.

In: Physical Genomics, 12.01.2016, p. 196-201.

Research output: Contribution to journalArticle

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T1 - Association of ACTN3 R577X but not ACE I/D gene variants with elite rugby union player status and playing position

AU - Heffernan, S M

AU - Kilduff, L P

AU - Erskine, R M

AU - Day, S H

AU - McPhee, J S

AU - Mc Mahon, Gerard

AU - Stebbings, G K

AU - Neale, J P H

AU - Lockey, S J

AU - Ribbans, W J

AU - Cook, C J

AU - Vance, B

AU - Raleigh, S M

AU - Roberts, C

AU - Bennett, M A

AU - Wang, G

AU - Collins, M

AU - Pitsiladis, Y P

AU - Williams, A G

PY - 2016/1/12

Y1 - 2016/1/12

N2 - 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 butnot ACE I/D gene variants with elite rugby union player status and playingposition. Physiol Genomics 48: 196–201, 2016. First published January 12,2016; doi:10.1152/physiolgenomics.00107.2015.—We aimed to quantifythe ACE I/D and ACTN3 R577X (rs1815739) genetic variants in eliterugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohortconsisted of 507 Caucasian men, including 431 rugby union athletes thatfor some analyses were divided into backs and forwards and into specificpositional groups: front five, back row, half backs, centers, and backthree. Controls were 710 Caucasian men and women. Real-time PCR ofgenomic DNA was used to determine genotypes using TaqMan probesand groups were compared using 2 and odds ratio (OR) statistics.Correction of P values for multiple comparisons was according toBenjamini-Hochberg. There was no difference in ACE I/D genotypebetween groups. ACTN3 XX genotype tended to be underrepresented inrugby union backs (15.7%) compared with forwards (24.8%, P 0.06).Interestingly, the 69 back three players (wings and full backs) in rugbyunion included only six XX genotype individuals (8.7%), with the Rallele 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 playingposition in elite rugby union athletes suggests inherited fatigue resistanceis more prevalent in forwards, while inherited sprint ability is moreprevalent in backs, especially wings and full backs. These results alsodemonstrate the advantage of focusing genetic studies on a large cohortwithin a single sport, especially when intrasport positional differencesexist, instead of combining several sports with varied demands andathlete characteristics

AB - 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 butnot ACE I/D gene variants with elite rugby union player status and playingposition. Physiol Genomics 48: 196–201, 2016. First published January 12,2016; doi:10.1152/physiolgenomics.00107.2015.—We aimed to quantifythe ACE I/D and ACTN3 R577X (rs1815739) genetic variants in eliterugby athletes (rugby union and league) and compare genotype frequencies to controls and between playing positions. The rugby athlete cohortconsisted of 507 Caucasian men, including 431 rugby union athletes thatfor some analyses were divided into backs and forwards and into specificpositional groups: front five, back row, half backs, centers, and backthree. Controls were 710 Caucasian men and women. Real-time PCR ofgenomic DNA was used to determine genotypes using TaqMan probesand groups were compared using 2 and odds ratio (OR) statistics.Correction of P values for multiple comparisons was according toBenjamini-Hochberg. There was no difference in ACE I/D genotypebetween groups. ACTN3 XX genotype tended to be underrepresented inrugby union backs (15.7%) compared with forwards (24.8%, P 0.06).Interestingly, the 69 back three players (wings and full backs) in rugbyunion included only six XX genotype individuals (8.7%), with the Rallele 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 playingposition in elite rugby union athletes suggests inherited fatigue resistanceis more prevalent in forwards, while inherited sprint ability is moreprevalent in backs, especially wings and full backs. These results alsodemonstrate the advantage of focusing genetic studies on a large cohortwithin a single sport, especially when intrasport positional differencesexist, instead of combining several sports with varied demands andathlete characteristics

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