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Citation
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Kim SK, Roche MD, Fredericson M, Dragoo JL, Horton BH, Avins AL, Belanger HG, Ioannidis JPA, Abrams GD. Med. Sci. Sports Exerc. 2020; ePub(ePub): ePub. |
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Abstract
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PURPOSE: To screen the entire genome for genetic markers associated with risk for concussion.
METHODS: A genome-wide-association (GWA) analyses was performed utilizing data from the Kaiser Permanente Research Board (KPRB) and the United Kingdom (UK) Biobank. Concussion cases were identified based on electronic health records from KPRB and UK Biobank from individuals of European ancestry. Genome-wide association analyses from both cohorts were tested for concussion using a logistic regression model adjusting for sex, height, weight and race/ethnicity using allele counts for single nucleotide polymorphisms (SNPs). Previously identified genes within the literature were also tested for association with concussion.
RESULTS: There was a total of 4,064 cases of concussion and 291,472 controls within the databases, with two SNPs demonstrating a genome-wide significant association with concussion. The first polymorphism, rs144663795 (p = 9.7x10; OR=2.91 per allele copy), is located within the intron of SPATA5. Strong, deleterious mutations in SPATA5 cause intellectual disablility, hearing loss and vision loss. The second polymorphism, rs117985931 (p = 3.97x10; OR= 3.59 per allele copy) is located within PLXNA4. PLXNA4 plays a key role is axon outgrowth during neural development, and DNA variants in PLXNA4 are associated with risk for Alzheimer's disease. Previous investigations have identified five candidate genes that may be associated with concussion, but none showed a significant association in the current model (p < 0.05).
CONCLUSION: Two genetic markers were identified as potential risk factors for concussion and deserve further validation and investigation of molecular mechanisms.
Language: en |