Concussion-Associated Gene Variant COMT rs4680 Is Associated With Elite Rugby Athlete Status

Clin J Sport Med. 2023 Sep 1;33(5):e145-e151. doi: 10.1097/JSM.0000000000001030. Epub 2022 Mar 29.

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 χ 2 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.

MeSH terms

  • Adult
  • Athletes
  • Brain Concussion* / genetics
  • Brain Concussion* / psychology
  • Catechol O-Methyltransferase / genetics
  • Female
  • Football* / injuries
  • Humans
  • Male
  • Polymorphism, Genetic
  • Rugby

Substances

  • COMT protein, human
  • Catechol O-Methyltransferase