Genetic variation in SLC17A7 promoter associated with response to sport-related concussions

Abstract

Objective: To determine the association of the single nucleotide polymorphism (SNP) rs74174284 within SLC17A7 promoter with concussion severity or duration.

Design: A between-subjects design was utilized.

Methods: Saliva samples and concussion severity and duration data were collected from 40 athletes diagnosed with a sport-related concussion by a physician, utilizing a standardized concussion assessment protocol. DNA was extracted, estimated and genotyped.

Results: An association was found between the dominant genetic model (CC vs GG + GC; p = 0.0179) and recovery, where those carrying the minor allele were 6.33-times more likely to experience prolonged recovery rates. Within the ImPACT assessment, those carrying the CC genotype (33.38 ± 10.15, p = 0.01) had worse motor speed scores upon initial assessment compared to both heterozygous (CG) and homozygous (GG) genotypes (41.59 ± 7.39).

Conclusions: This study was the first to demonstrate an association between genetic polymorphism at rs7417284 SNP in the promoter region of the SLC17A7 gene and concussion severity and duration. Based upon these findings, rs74174284 is a potential predictive genetic marker for identifying athletes who are more susceptible for altered recovery times and worse motor speed ImPACT scores after sport-related concussion.

Keywords:

• Polymorphism
• VGLUT1
• vesicular transporters
• rs74174284
• prolonged recovery
• head impact
• mild traumatic brain injury
• athletes

Acknowledgements

The authors are grateful to the Jayne Haines Center for Pharmacogenomics and Drug Safety, Temple University School of Pharmacy for the help in establishing the protocols and conducting the genotyping experiments.

Declaration of interest

This work was not supported by any outside agencies or grants. The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.