KIAA0319 Genotype Predicts the Number of Past Concussions in a Division I Football Team: A Pilot Study

Walter, Alexa E; Herrold, Amy A.; Gallagher, Virginia T.; Lee, Rosa; Scaramuzzo, Madeleine; Bream, Tim; Seidenberg, Peter H.; Vandenbergh, David J.; O'Connor, Kailyn; Talavage, Thomas M.; Nauman, Eric A.; Slobounov, Semyon; Breiter, Hans C.

doi:10.1089/neu.2017.5622

Cited by 8 publications

(4 citation statements)

References 100 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Recently, there has also been increased interest in genetic susceptibility to concussion. The literature investigating the molecular mechanisms of increased susceptibility is sparse, but genetic factors have been implicated in patients with recurrent concussions that warrant further investigation 27–30…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Effects of Recurrent Mild Traumatic Brain Injuries on Incidence, Severity, and Recovery of Concussion in Young Student-Athletes

Hannah

Spiera

et al. 2021

Journal of Head Trauma Rehabilitation

View full text Add to dashboard Cite

Objective: To examine the effects of recurrent concussions on the incidence, severity, and recovery of significant neurocognitive dysfunction (SND) in young athletes. Setting: Various US youth sports organizations that utilize Immediate Post-Concussion Assessment and Cognitive Testing (ImPACT) for baseline and postinjury concussion testing. Participants: Data from 11 563 ImPACT baseline evaluations of US student-athletes aged 12 to 22 years were separated into 2 cohorts: subjects reporting 2 or more previous concussions (PC; n = 976 baseline evaluations) at baseline and a control group reporting zero previous concussions (CT; n = 7743 baseline evaluations). Subjects reporting 1 prior concussion were excluded. Design: Retrospective cohort. Main Measures: Differences in SND incidence, severity, and recovery between the 2 cohorts were assessed using chi-squared tests, t tests, survival analyses, and multivariate regressions. Results: The PC cohort had a higher incidence of head injury leading to ImPACT (436.7 per 1000 person-years vs 194.4 per 1000 person-years, P < .0001) and a higher incidence of SND (140.4 vs 71.8, P < .0001) than controls. However, the Severity Index (SI) demonstrated that SND severity was lower in the PC group (7.55 vs 8.59, P = .04). Adjusted analyses similarly demonstrated that the PC cohort had increased SND incidence (odds ratio = 1.93; 95% CI, 1.61 to 2.31; P < .0001), decreased SI (β = −1.37; 95% CI, −2.40 to −0.34; P = .009), and equivalent recovery (hazard ratio = 0.98; 95% CI, 0.76 to 1.72; P = .90). Conclusion: Participants with a history of concussion have a higher incidence of SND but present with lower severity SND, which may be a result of increased concussion education or symptom awareness. Recurrent concussion has no significant impact on acute neurocognitive recovery. Together, these results provide evidence against the supposition that a history of concussion increases the severity of future SND.

show abstract

Section: Discussionmentioning

confidence: 99%

“…The literature investigating the molecular mechanisms of increased susceptibility is sparse, but genetic factors have been implicated in patients with recurrent concussions that warrant further investigation. [27][28][29][30]…”

Section: Incidencementioning

confidence: 99%

Effects of Recurrent Mild Traumatic Brain Injuries on Incidence, Severity, and Recovery of Concussion in Young Student-Athletes

Hannah

Spiera

et al. 2021

Journal of Head Trauma Rehabilitation

View full text Add to dashboard Cite

show abstract

“…99,100 In addition to these genes, the genotype of KIAA0319, a gene implicated in dyslexia, significantly predicted number of previous concussions among college football players. 103 Because they are peripherally accessible, expressed in the brain, and have been implicated in other brain disorders 65 or trauma exposures, 61 microRNAs (short, noncoding RNAs [20-23 nucleotides] that inhibit messenger RNA and protein expression) 10,43 may be potential biomarkers for concussion. There is differential microRNA expression in animal models of concussion, where expression profiles fluctuate post injury (unpublished data).…”

Section: Geneticsmentioning

confidence: 99%

Cutting to the Pathophysiology Chase: Translating Cutting-Edge Neuroscience to Rehabilitation Practice in Sports-Related Concussion Management

Chen¹,

Herrold²,

Gallagher³

et al. 2019

J Orthop Sports Phys Ther

Self Cite

View full text Add to dashboard Cite

“… 9 Additionally, ion channels are suggested to play a role in the development of acquired neurological dysfunction (e.g., epilepsy) following environmental disturbances (e.g., head injury or trauma). 10 Further evidence suggests that genotype, particularly of neuronal genes including KIAA0319 , 11 BDNF , 12–14 and APOE 15 , 16 plays a role in response to head injury and recovery from mTBI.…”

Section: Introductionmentioning

confidence: 99%

Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach

Ibrahim

Sutherland

Maksemous

et al. 2020

Journal of Neurotrauma

View full text Add to dashboard Cite

Brain injuries are associated with oxidative stress and a need to restore neuronal homeostasis. Mutations in ion channel genes, in particular CACNA1A, have been implicated in familial hemiplegic migraine (FHM) and in the development of concussion-related symptoms in response to trivial head trauma. The aim of this study was to explore the potential role of variants in other ion channel genes in the development of such responses. We conducted whole exome sequencing (WES) on16 individuals who developed a range of neurological and concussion-related symptoms following minor or trivial head injuries. All individuals were initially tested and shown to be negative for mutations in known FHM genes. Variants identified from the WES results were filtered to identify rare variants (minor allele frequency [MAF] <0.01) in genes related to neural processes as well as genes highly expressed in the brain using a combination of in silico prediction tools (SIFT, PolyPhen, PredictSNP, Mutation Taster, and Mutation Assessor). Rare (MAF <0.001) or novel heterozygous variants in 7 ion channel genes were identified in 37.5% (6/16) of the cases (CACNA1I, CACNA1C, ATP10A, ATP7B, KCNAB1, KCNJ10, and SLC26A4), rare variants in neurotransmitter genes were found in 2 cases (GABRG1 and GRIK1), and rare variants in 3 ubiquitin-related genes identified in 4 cases (SQSTM1, TRIM2, and HECTD1). In this study, the largest proportion of potentially pathogenic variants in individuals with severe responses to minor head trauma were identified in genes previously implicated in migraine and seizure-related autosomal recessive neurological disorders. Together with results implicating variants in the hemiplegic migraine genes, CACNA1A and ATP1A2, in severe head trauma response, our results support a role for heterozygous deleterious mutations in genes implicated in neurological dysfunction and potentially increasing the risk of poor response to trivial head trauma.

show abstract

KIAA0319 Genotype Predicts the Number of Past Concussions in a Division I Football Team: A Pilot Study

Cited by 8 publications

References 100 publications

Effects of Recurrent Mild Traumatic Brain Injuries on Incidence, Severity, and Recovery of Concussion in Young Student-Athletes

Effects of Recurrent Mild Traumatic Brain Injuries on Incidence, Severity, and Recovery of Concussion in Young Student-Athletes

Cutting to the Pathophysiology Chase: Translating Cutting-Edge Neuroscience to Rehabilitation Practice in Sports-Related Concussion Management

Exploring Neuronal Vulnerability to Head Trauma Using a Whole Exome Approach

Contact Info

Product

Resources

About