title: 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.
  
  
  METHODS
  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.
authors.affiliation: a Department of Kinesiology , Temple University , Philadelphia , PA , USA.
authors.forename: Stephanie A
authors.initials: SA
authors.lastname: Madura
authors.affiliation: a Department of Kinesiology , Temple University , Philadelphia , PA , USA.
authors.forename: Jane K
authors.initials: JK
authors.lastname: McDevitt
authors.affiliation: a Department of Kinesiology , Temple University , Philadelphia , PA , USA.
authors.forename: Ryan T
authors.initials: RT
authors.lastname: Tierney
authors.affiliation: a Department of Kinesiology , Temple University , Philadelphia , PA , USA.
authors.forename: Jamie L
authors.initials: JL
authors.lastname: Mansell
authors.affiliation: a Department of Kinesiology , Temple University , Philadelphia , PA , USA.
authors.forename: David J
authors.initials: DJ
authors.lastname: Hayes
authors.affiliation: b Biostatistics Consulting Center , Philadelphia , PA , USA.
authors.forename: John P
authors.initials: JP
authors.lastname: Gaughan
authors.affiliation: c Temple University School of Pharmacy , Philadelphia , PA , USA.
authors.forename: Evgeny
authors.initials: E
authors.lastname: Krynetskiy
mesh_terms: D000293:Adolescent; D000328:Adult; D000483:Alleles; D056352:Athletes; D001265:Athletic Injuries / Q000175:diagnosis / Q000235:genetics*; D001924:Brain Concussion / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D059647:Gene-Environment Interaction; D005838:Genotype; D006801:Humans; D015601:Injury Severity Score; D008297:Male; D009483:Neuropsychological Tests; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D020127:Recovery of Function; D013997:Time Factors; D050598:Vesicular Glutamate Transport Protein 1 / Q000235:genetics*; D055815:Young Adult
chemical_list: C493464:SLC17A7 protein, human; D050598:Vesicular Glutamate Transport Protein 1
keywords: Polymorphism; VGLUT1; athletes; head impact; mild traumatic brain injury; prolonged recovery; rs74174284; vesicular transporters