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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

Updated: Dec 7, 2025

Author Spotlight: High-Resolution Imaging of Mouse Neonate Brains – A Micro-CT Protocol with Lugol's Solution Contrast Agent
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Genome-Wide Association Analysis of Neonatal White Matter Microstructure.

J Zhang1, K Xia2, M Ahn3

  • 1Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA, USA.

Cerebral Cortex (New York, N.Y. : 1991)
|October 3, 2020
PubMed
Summary

Genetic factors influence early brain white matter development. A genome-wide association study identified a significant genetic locus near PSMF1, advancing understanding of neurological conditions linked to white matter integrity.

Keywords:
diffusion tensor imaginggenome-wide association studyinfantmagnetic resonance imaging

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Area of Science:

  • Neuroscience
  • Genetics
  • Developmental Biology

Background:

  • Altered white matter integrity is implicated in various neurological and psychiatric disorders.
  • Understanding genetic influences on early white matter development is crucial for advancing neuroscience.
  • Axonal pathway integrity is fundamental to brain function.

Purpose of the Study:

  • To investigate the genetic underpinnings of early white matter development using genome-wide association studies.
  • To identify specific genetic loci associated with white matter microstructure variations in neonates.
  • To explore the relationship between genetic factors and the heritability of white matter tracts.

Main Methods:

  • Genome-wide association study (GWAS) of diffusion tensor imaging (DTI) phenotypes in 471 neonates.
  • Hierarchical functional principal regression model (HFPRM) for joint analysis of 44 white matter fiber bundles.
  • Statistical analysis to identify significant single nucleotide polymorphisms (SNPs) associated with white matter variation.

Main Results:

  • HFPRM identified a latent measure of white matter microstructure explaining ~50% of tractography-based variation.
  • A significant genetic locus (p=4.61 x 10^-8) was identified in an intronic region of the PSMF1 gene on chromosome 20.
  • Additional loci near genes involved in axon growth, guidance, fasciculation, and myelination showed near genome-wide significance.

Conclusions:

  • Genetic factors play a substantial role in early white matter microstructure development.
  • The study identified a novel genetic association (PSMF1) influencing white matter development.
  • Findings provide a foundation for further research into genetic contributions to neurodevelopmental disorders.