Concussion-associated gene variant COMT rs4680 is associated with elite rugby athlete status

Antrobus, Mark R, Brazier, Jon, Callus, Peter, Herbert, Adam J, Stebbings, Georgina K ORCID: https://orcid.org/0000-0003-0706-2864, Day, Stephen H, Kilduff, Liam P, Bennett, Mark A, Erskine, Robert M, Raleigh, Stuart M, Collins, Malcolm, Pitsiladis, Yannis P, Heffernan, Shane M and Williams, Alun G ORCID: https://orcid.org/0000-0002-8052-8184 (2023) Concussion-associated gene variant COMT rs4680 is associated with elite rugby athlete status. Clinical Journal of Sport Medicine, 33 (5). e145-e151. ISSN 1050-642X

Preview

Accepted Version Available under License Creative Commons Attribution Non-commercial. Download (646kB) | Preview

Abstract

Objective: Concussions are common match injuries in elite rugby, and reports exist of reduced cognitive function and long-term health consequences that can interrupt or end a playing career and produce continued ill health. The aim of this study was to investigate the association between elite rugby status and 8 concussion-associated risk polymorphisms. We hypothesized that concussion-associated risk genotypes and alleles would be underrepresented in elite rugby athletes compared with nonathletes. Design: A case–control genetic association study. Setting: Institutional (university). Participants: Elite White male rugby athletes [n = 668, mean (SD) height 1.85 (0.07) m, mass 102 (12) kg, and age 29 (7) years] and 1015 nonathlete White men and women (48% men). Interventions: Genotype was the independent variable, obtained by PCR of genomic DNA using TaqMan probes. Main Outcome Measure: Elite athlete status with groups compared using χ2 and odds ratio (OR). Results: The COMT rs4680 Met/Met (AA) genotype, Met allele possession, and Met allele frequency were lower in rugby athletes (24.8%, 74.6%, and 49.7%, respectively) than nonathletes (30.2%, 77.6%, and 54.0%; P < 0.05). The Val/Val (GG) genotype was more common in elite rugby athletes than nonathletes (OR 1.39, 95% confidence interval 1.04-1.86). No other polymorphism was associated with elite athlete status. Conclusions: Elite rugby athlete status is associated with COMT rs4680 genotype that, acting pleiotropically, could affect stress resilience and behavioral traits during competition, concussion risk, and/or recovery from concussion. Consequently, assessing COMT rs4680 genotype might aid future individualized management of concussion risk among athletes.