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

Antrobus, Mark; Brazier, Jon; Callus, Peter; Herbert, Adam J.; Stebbings, Georgina K.; Day, Stephen H.; Kilduff, Liam P.; Bennett, Mark A.; Erskine, Robert M.; Raleigh, Stuart M; Collins, Malcolm; Pitsiladis, Yannis; Heffernan, Shane M.; Williams, Alun G.

doi:10.1097/jsm.0000000000001030

Cited by 4 publications

(11 citation statements)

References 68 publications

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“…We separately found no differences in genotype frequencies between elite rugby athletes and non-athletes for seven out of eight concussion-associated genetic variants [34]. That might have been because individual variants cannot represent the complexity of concussion risk and do not reflect SNP-SNP interactions, known as non-linear interaction or epistasis [53].…”

Section: Discussionmentioning

confidence: 69%

“…Lipsky et al [23] observed that GG carriers had 40% poorer executive function than AA carriers post-TBI. Recently, it has been observed that elite rugby athletes have 1.4 times the odds of possessing the GG genotype of COMT (rs4680) compared to non-athletes [34]. In addition, Mc Fie et al [33] observed that A allele carriers in a cohort of youth and professional South African RU players were approximately more likely to have a history of concussion.…”

Section: Discussionmentioning

confidence: 99%

“…In addition, Mc Fie et al [33] observed that A allele carriers in a cohort of youth and professional South African RU players were approximately more likely to have a history of concussion. Considering the pleiotropic nature of COMT (rs4680), G carriers could possess greater stress resilience and reduced anxiety in competitive environments and be at lower risk of experiencing concussions but also be at risk of poorer cognitive function post-concussion [34,57,58]. The MAPT TT genotype (rs10445337) has been weakly associated with a greater risk of repeated concussion [6,7].…”

Section: Discussionmentioning

confidence: 99%

“…Table 2. Genotype score of each polymorphism and genotype frequencies in elite rugby athletes and in non-athletes [34]. In addition, a TGS algorithm determined only by observed genotype frequencies in elite rugby athletes was also calculated, wherein three of the seven genotype scores allocated had different values that reflected the prior evidence [34] (APOE rs405509 TT = 2, GT = 1, GG = 0, COMT rs4680 GG = 2, GA = 1, AA = 0 and NOS3 rs2070744 TT = 2, TC = 1, CC = 0).…”

Section: Calculation Of Tgsmentioning

confidence: 99%

“…The catechol-O-methyltransferase (COMT) gene rs4680 Val allele carriers performed poorer on tests of executive function post-TBI [32], and Met carrying RU players have been reported to be approximately three-fold more likely to have a history of concussion [33]. Indeed, elite rugby athletes have ~1.4 times the odds of being Val/Val (GG) genotype compared to non-athletes [34], while other single nucleotide polymorphism (SNP) variants related to different injury types are also more frequent in elite rugby athletes [35]. Alleles previously associated with traumatic brain injury are underlined (adapted from Antrobus et al [14]).…”

Section: Introductionmentioning

confidence: 99%

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Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

Antrobus

Brazier

Callus

et al. 2022

Genes

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Due to the high-velocity collision-based nature of elite rugby league and union, the risk of sustaining a concussion is high. Occurrence of and outcomes following a concussion are probably affected by the interaction of multiple genes in a polygenic manner. This study investigated whether suspected concussion-associated polygenic profiles of elite rugby athletes differed from non-athletes and between rugby union forwards and backs. We hypothesised that a total genotype score (TGS) using eight concussion-associated polymorphisms would be higher in elite rugby athletes than non-athletes, indicating selection for protection against incurring or suffering prolonged effects of, concussion in the relatively high-risk environment of competitive rugby. In addition, multifactor dimensionality reduction was used to identify genetic interactions. Contrary to our hypothesis, TGS did not differ between elite rugby athletes and non-athletes (p ≥ 0.065), nor between rugby union forwards and backs (p = 0.668). Accordingly, the TGS could not discriminate between elite rugby athletes and non-athletes (AUC ~0.5), suggesting that, for the eight polymorphisms investigated, elite rugby athletes do not have a more ‘preferable’ concussion-associated polygenic profile than non-athletes. However, the COMT (rs4680) and MAPT (rs10445337) GC allele combination was more common in rugby athletes (31.7%; p < 0.001) and rugby union athletes (31.8%; p < 0.001) than non-athletes (24.5%). Our results thus suggest a genetic interaction between COMT (rs4680) and MAPT (rs10445337) assists rugby athletes in achieving elite status. These findings need exploration vis-à-vis sport-related concussion injury data and could have implications for the management of inter-individual differences in concussion risk.

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Section: Discussionmentioning

confidence: 69%

Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Calculation Of Tgsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

Antrobus

Brazier

Callus

et al. 2022

Genes

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A review of molecular and genetic factors for determining mild traumatic brain injury severity and recovery

Tajik

Danielli²,

Sharma³

et al. 2022

Brain Disorders

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Genetics of Performance and Injury: Considerations for the Strength and Conditioning Coach

Brazier,

Turner,

Antrobus

2024

Strength &Amp; Conditioning Journal

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Genetic profiling and direct-to-consumer genetic testing have seen exponential growth in the past decade, driven by advancements in knowledge and technology making genetic information far more accessible to the population. Specifically in the sports industry, there are claims that the results from these tests can inform training and dietary practices and even identify children's athletic talents. However, in some cases, how this information is being used or promoted can be far removed from the evidence base. Because of this, anyone involved in the sports industry, such as strength and conditioning coaches, sports scientists, coaches, and parents, need to have a sound grasp of what can and cannot be taken from genetic tests. Thus, the purpose of this article is to provide a brief overview of genetics and heredity, highlight some of the key genetic findings to date regarding athletic performance and injury, and then finally provide context as to how this information can be used.

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

Cited by 4 publications

References 68 publications

Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

Concussion-Associated Polygenic Profiles of Elite Male Rugby Athletes

A review of molecular and genetic factors for determining mild traumatic brain injury severity and recovery

Genetics of Performance and Injury: Considerations for the Strength and Conditioning Coach

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