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Inflammatory and apoptotic signalling pathways and concussion severity: a genetic association study
Sarah Mc Fie1, Shameemah Abrahams1, Jon Patricios2,3,4
1a Division of Exercise Science and Sports Medicine, Department of Human Biology, Faculty of Health Science , University of Cape Town , Cape Town , South Africa.
Journal of Sports Sciences
|March 7, 2018
Summary
Genetic variants in interleukin-1 beta (IL-1B) and interleukin-6 (IL-6) are linked to increased concussion symptom severity and duration in rugby players. These findings suggest a role for neuroinflammation in concussion outcomes.
Area of Science:
- Genetics
- Neuroscience
- Sports Medicine
Background:
- Concussion severity and duration vary significantly among individuals.
- Genetic factors may influence an individual's susceptibility to concussion symptoms.
- Inflammatory pathways are implicated in the neurobiological response to head injury.
Purpose of the Study:
- To investigate the association between specific genetic polymorphisms (IL-1B rs16944, IL-6 rs1800795, CASP8 rs3834129) and concussion severity in rugby players.
- To explore the relationship between these genetic variations and the number and duration of concussion symptoms.
- To identify potential genetic markers for predicting concussion outcomes.
Main Methods:
- A cohort of 163 rugby players (high school, amateur, professional) provided DNA samples and completed a concussion severity questionnaire.
- Participants were genotyped for IL-1B rs16944, IL-6 rs1800795, and CASP8 rs3834129 polymorphisms.
- Players were categorized into high and low symptom severity/duration groups based on questionnaire responses and median values.
Main Results:
- Increased frequency of high symptom counts (more than five symptoms) was observed with specific genotypes of IL-1B (P = 0.047) and IL-6 (P = 0.027).
- A combined interleukin allele construct (C-C) was significantly associated with lower symptom counts (P = 0.002) and shorter symptom duration (P = 0.015).
- CASP8 rs3834129 did not show a significant association with concussion severity in this cohort.
Conclusions:
- Novel genetic associations between inflammatory pathway polymorphisms (IL-1B, IL-6) and concussion severity were identified.
- The findings support the hypothesis that neuroinflammation plays a role in the development and manifestation of concussion symptoms.
- These genetic markers may offer insights into individual differences in concussion recovery and inform future research.
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