Genetic variation in SLC17A7 promoter associated with response to sport-related concussions. (6th June 2016)

• Record Type: Journal Article
• Authors: Madura, Stephanie A.; McDevitt, Jane K.; Tierney, Ryan T.; Mansell, Jamie L.; Hayes, David J.; Gaughan, John P.; Krynetskiy, Evgeny
• Is Part Of: Brain injury. Volume 30:Number 7(2016)
• Page Start: 908
• Page End: 913
• Publication Date: 2016-06-06
• Subjects: Polymorphism -- VGLUT1 -- vesicular transporters -- rs74174284 -- prolonged recovery -- head impact -- mild traumatic brain injury -- athletes; Brain damage -- Periodicals; Brain -- Wounds and injuries -- Periodicals; Brain Injuries -- Periodicals; 617.481
• DOI: 10.3109/02699052.2016.1146958
• Languages: English
• ISSNs: 0269-9052

Abstract

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.