title: 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 χ(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%; 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 intrasport positional differences exist, instead of combining several sports with varied demands and athlete characteristics.
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom; shane.heffernan@stu.mmu.ac.uk.
authors.forename: S M
authors.initials: SM
authors.lastname: Heffernan
authors.affiliation: A-STEM, College of Engineering, Swansea University, Swansea, United Kingdom;
authors.forename: L P
authors.initials: LP
authors.lastname: Kilduff
authors.affiliation: Research Institute for Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, United Kingdom; Institute of Sport, Exercise and Health, University College London, London, United Kingdom;
authors.forename: R M
authors.initials: RM
authors.lastname: Erskine
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom;
authors.forename: S H
authors.initials: SH
authors.lastname: Day
authors.affiliation: School of Healthcare Science, Manchester Metropolitan University, Manchester, United Kingdom;
authors.forename: J S
authors.initials: JS
authors.lastname: McPhee
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom; Northern Ireland Sports Institute, Newtownabbey, Belfast, United Kingdom;
authors.forename: G E
authors.initials: GE
authors.lastname: McMahon
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom;
authors.forename: G K
authors.initials: GK
authors.lastname: Stebbings
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom;
authors.forename: J P H
authors.initials: JP
authors.lastname: Neale
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom;
authors.forename: S J
authors.initials: SJ
authors.lastname: Lockey
authors.affiliation: Division of Sport, Exercise and Life Science, University of Northampton, Northampton, United Kingdom;
authors.forename: W J
authors.initials: WJ
authors.lastname: Ribbans
authors.affiliation: School of Sport, Health and Exercise Sciences, Bangor University, Bangor, United Kingdom;
authors.forename: C J
authors.initials: CJ
authors.lastname: Cook
authors.affiliation: Institute of Cardiovascular & Medical Sciences University of Glasgow, Glasgow, United Kingdom;
authors.forename: B
authors.initials: B
authors.lastname: Vance
authors.affiliation: Division of Sport, Exercise and Life Science, University of Northampton, Northampton, United Kingdom;
authors.forename: S M
authors.initials: SM
authors.lastname: Raleigh
authors.affiliation: Medical and Scientific Department, South African Rugby Union, Cape Town, South Africa; Discipline of Sports Science, Faculty of Health Sciences, University of Kwazulu-Natal, Durban, South Africa;
authors.forename: C
authors.initials: C
authors.lastname: Roberts
authors.affiliation: A-STEM, College of Engineering, Swansea University, Swansea, United Kingdom;
authors.forename: M A
authors.initials: MA
authors.lastname: Bennett
authors.affiliation: Centre for Sport and Exercise Science and Medicine (SESAME), University of Brighton, Brighton, United Kingdom; and.
authors.forename: G
authors.initials: G
authors.lastname: Wang
authors.affiliation: MRC/UCT Research Unit for Exercise Science and Sports Medicine, University of Cape Town (UCT), Cape Town, South Africa.
authors.forename: M
authors.initials: M
authors.lastname: Collins
authors.affiliation: Centre for Sport and Exercise Science and Medicine (SESAME), University of Brighton, Brighton, United Kingdom; and.
authors.forename: Y P
authors.initials: YP
authors.lastname: Pitsiladis
authors.affiliation: MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, United Kingdom; Institute of Sport, Exercise and Health, University College London, London, United Kingdom;
authors.forename: A G
authors.initials: AG
authors.lastname: Williams
mesh_terms: D000185:Actinin / Q000235:genetics*; D000328:Adult; D000483:Alleles; D056352:Athletes; D005538:Football; D005787:Gene Frequency / Q000235:genetics; D056726:Genetic Association Studies; D006801:Humans; D054643:INDEL Mutation / Q000235:genetics*; D008297:Male; D007703:Peptidyl-Dipeptidase A / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*
chemical_list: C118456:ACTN3 protein, human; D000185:Actinin; C488034:ACE protein, human; D007703:Peptidyl-Dipeptidase A
keywords: RugbyGene project; angiotensin converting enzyme; athlete genetics; α-actinin-3