Research impact: Genetics in sport
A greater understanding of the role that genetic variation plays in determining performance is helping to shape the way think about, prepare for and regulate elite sports.
Research: Ageing and frailty
Research summary
Researchers at the Centre for Musculoskeletal Science and Sports Medicine have carried out ground-breaking research into the role genetic variation plays in physical fitness, training, risk of injury and success in elite sport.
Dr Alun Williams pioneered the analysis of genetic variation and its impact on athletes’ bodies to better understand the roles of the ACE, ACTN3 and several other genes.
His team was first to show that possessing multiple, specific genetic variants can improve physical performance.
They identified the impact of individual genetic variations, including a strong link between an ACE gene with a particular type of receptor and high levels of athletic endurance. But also that while non-athletes with the ACTN3 R-allele had larger muscle volume, greater power and strength compared to those without it, this didn’t translate to better performance in training.
Dr Williams also led a large, international study that combined performance and genotype data from 698 elite athletes in six countries. It showed that individual genetic variants have at best a small effect on performance in elite endurance running.
The Centre’s wider research confirms that a few common variations only account for a very small portion of the substantial genetic influence on physical performance.
Statistic
Research impact
Research impact
The Centre’s research has been at the centre of global debates about biology and gender identity, the regulation of sport and the role of genetic testing.
Dr Williams was an expert witness at the Court of Arbitration for Sport in the case of Caster Semenya v the International Association of Athletics Federations, which focused on female athletes with differences in sex development (DSD).
Judges agreed with evidence from Dr Williams that the IAAF discriminated against the South African Olympian Semenya. But they also deemed the regulations “necessary” to protect the female category in a highly controversial ruling later condemned by the United Nations.
Dr Williams has repeatedly cautioned against the use of genetic testing for sport performance by teams and individuals without sufficient supporting evidence.
His research at the Centre underpins the genetic testing polity of the Australian Institute of Sport. Elite rugby and football clubs, and sports national governing bodies, have rejected genetic testing after Williams’s research and advice.
I am very disappointed to be kept from defending my hard-earned title. But this will not deter me from continuing my fight for the human rights of all of the female athletes concerned.
Research outputs
Research outputs
Academic papers
Williams AG, Dhamrait SS, Wootton PTE, Day SH, Hawe E, Payne JR, Myerson SG, World M, Budgett R, Humphries SE and Montgomery HE (2004) Bradykinin receptor gene variant and human physical performance. J Appl Physiol, 96, 3, 938-942
Erskine RM, Williams AG, Jones DA, Stewart C & Degens H (2014) The individual and combined influence of ACE and ACTN3 genotypes on muscle phenotypes before and after strength training. Scand J Med Sci Sports, 24, 4, 642-648.
Papadimitriou ID, Lockey SJ, Voisin S, Herbert AJ, Garton F, Houweling PJ, Cieszczyk P, Maciejewska-Skrendo A, Sawczuk M, Massidda M, Calo CM, Astratenkova IV, Kouvatsi A, Druzhevskaya AM, Jacques M, Ahmetov II, Stebbings GK, Heffernan SM, Day SH, Erskine RM, Pedlar C, Kipps C, North KN, Williams AG and Eynon N (2018) No association between ACTN3 R577X and ACE I/D polymorphisms and endurance running times in 698 Caucasian athletes. BMC Genomics, 19, 1 13.
Williams AG and Folland JP (2008) Similarity of polygenic profiles limits the potential for elite human physical performance. J Physiol, 586, 1, 113-121.
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. Physiol Genomics, 48, 3, 196-201.
Heffernan SM, Stebbings GK, Kilduff LP, Erskine RM, Day SH, Morse CI, McPhee JS, Cook CJ, Vance B, Ribbans WJ, Raleigh SM, Roberts C, Bennett MA, Wang G, Collins M, Pitsiladis YP and Williams AG (2017) Fat mass and obesity associated (FTO) gene influences skeletal muscle phenotypes in non-resistance trained males and elite rugby playing position. BMC Genet, 18, 1, 4.
Heffernan SM, Kilduff LP, Erskine RM, Day SH, Stebbings GK, Cook CJ, Raleigh SM, Bennett MA, Wang G, Collins M, Pitsiladis YP and Williams AG (2017) COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby. BMC Genomics, 18, Supp 8, 820.
Research team
External funding
With funding from
The Royal Society
The European Union
Holos Life Sciences
Contact
Contact
For general enquiries about the Sports Medicine and Elite Performance research theme, you can contact its lead Dr Keith Winwood.
