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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Related Experiment Video

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A Neuroscientific Approach to the Examination of Concussions in Student-Athletes
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A Genome-wide Association Study for Concussion Risk.

Stuart K Kim1, Megan D Roche2, Michael Fredericson2

  • 1Department of Developmental Biology, Stanford University Medical School, Stanford, CA.

Medicine and Science in Sports and Exercise
|October 5, 2020
PubMed
Summary
This summary is machine-generated.

This study identified two genetic markers, rs144663795 near SPATA5 and rs117985931 in PLXNA4, associated with concussion risk. These findings may advance understanding of concussion

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Area of Science:

  • Genetics
  • Neuroscience
  • Bioinformatics

Background:

  • Concussion is a common traumatic brain injury with complex genetic underpinnings.
  • Identifying genetic risk factors can improve understanding and potentially prevention strategies.

Purpose of the Study:

  • To conduct a genome-wide screening for genetic markers associated with concussion risk.
  • To identify novel single nucleotide polymorphisms (SNPs) linked to concussion susceptibility.

Main Methods:

  • Genome-wide association analyses were performed on large cohorts (Kaiser Permanente Research Bank and UK Biobank) of European ancestry.
  • Concussion cases were identified via electronic health records, and logistic regression models adjusted for covariates.
  • Previously implicated genes were re-evaluated for association with concussion risk.

Main Results:

  • Two SNPs achieved genome-wide significance: rs144663795 (P = 9.7 × 10-11) near SPATA5 and rs117985931 (P = 3.97 × 10-9) in PLXNA4.
  • rs144663795 is intronic to SPATA5, a gene linked to intellectual disability and sensory loss.
  • rs117985931 is in PLXNA4, a gene crucial for neural development and implicated in Alzheimer's disease risk.

Conclusions:

  • Two novel genetic markers, rs144663795 and rs117985931, show significant association with concussion risk.
  • These findings warrant further investigation into their molecular mechanisms and potential role in concussion pathophysiology.