COL5A1 gene variants previously associated with reduced soft tissue injury risk are associated with elite athlete status in rugby

BMC Genomics

Research

Liam P. Kilduff¹  Mark A. Bennett¹  Christian J. Cook²  Stuart M. Raleigh³  Malcolm Collins⁴  Guan Wang⁵  Yannis P. Pitsiladis⁵  Stephen H. Day⁶  Georgina K. Stebbings⁶  Alun G. Williams⁷  Shane M. Heffernan⁸  Robert M. Erskine⁹ 

[1] A-STEM, College of Engineering, Swansea University, Swansea, UK;A-STEM, College of Engineering, Swansea University, Swansea, UK;School of Sport, Health and Exercise Sciences, Bangor University, Bangor, UK;Centre for Physical Activity and Chronic Disease, Institute of Health and Wellbeing, University of Northampton, Northampton, UK;Division of Exercise Science and Sports Medicine, Department of Human Biology, University of Cape Town (UCT), Cape Town, South Africa;FIMS Reference Collaborating Centre of Sports Medicine for Anti-Doping Research, University of Brighton, Brighton, UK;MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK;MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK;Institute of Sport, Exercise and Health, University College London, London, UK;MMU Sports Genomics Laboratory, Manchester Metropolitan University, Crewe, Manchester, UK;School of Public Health, Physiotherapy and Sports Science, University College Dublin, Dublin 4, Ireland;Research Institute for Sport & Exercise Sciences, Liverpool John Moores University, Liverpool, UK;Institute of Sport, Exercise and Health, University College London, London, UK;

关键词: Rugby union;    Rugby league;    Tendon;    Ligament;    Genetics;   

DOI  :  10.1186/s12864-017-4187-3

来源: Springer

【 摘 要 】

BackgroundTwo common single nucleotide polymorphisms within the COL5A1 gene (SNPs; rs12722 C/T and rs3196378 C/A) have previously been associated with tendon and ligament pathologies. Given the high incidence of tendon and ligament injuries in elite rugby athletes, we hypothesised that both SNPs would be associated with career success.ResultsIn 1105 participants (RugbyGene project), comprising 460 elite rugby union (RU), 88 elite rugby league athletes and 565 non-athlete controls, DNA was collected and genotyped for the COL5A1 rs12722 and rs3196378 variants using real-time PCR. For rs12722, the injury-protective CC genotype and C allele were more common in all athletes (21% and 47%, respectively) and RU athletes (22% and 48%) than in controls (16% and 41%, P ≤ 0.01). For rs3196378, the CC genotype and C allele were overrepresented in all athletes (23% and 48%) and RU athletes (24% and 49%) compared with controls (16% and 41%, P ≤ 0.02). The CC genotype in particular was overrepresented in the back and centres (24%) compared with controls, with more than twice the odds (OR = 2.25, P = 0.006) of possessing the injury-protective CC genotype. Furthermore, when considering both SNPs simultaneously, the CC–CC SNP-SNP combination and C–C inferred allele combination were higher in all the athlete groups (≥18% and ≥43%) compared with controls (13% and 40%; P = 0.01). However, no genotype differences were identified for either SNP when RU playing positions were compared directly with each other.ConclusionIt appears that the C alleles, CC genotypes and resulting combinations of both rs12722 and rs3196378 are beneficial for rugby athletes to achieve elite status and carriage of these variants may impart an inherited resistance against soft tissue injury, despite exposure to the high-risk environment of elite rugby. These data have implications for the management of inter-individual differences in injury risk amongst elite athletes.

【 授权许可】

CC BY   
© The Author(s). 2017