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Common genetic variants influence human subcortical brain structures
Derrek P Hibar1, Jason L Stein2, Miguel E Renteria3
1Imaging Genetics Center, Institute for Neuroimaging &Informatics, Keck School of Medicine of the University of Southern California, Los Angeles, California 90292, USA.
Nature
|January 22, 2015
Summary
Genetic variants significantly impact human brain structure, particularly subcortical regions like the putamen and caudate nucleus. This study identified novel genetic influences on brain volumes, offering insights into development and neuropsychiatric disorders.
Area of Science:
- Neurogenetics
- Human Brain Anatomy
- Molecular Psychiatry
Background:
- Human brain structure is significantly influenced by genetic factors.
- Subcortical brain regions are crucial for motor control, learning, memory, and motivation.
- Disruptions in brain circuits are linked to abnormal behaviors and neurological diseases.
Purpose of the Study:
- To investigate how common genetic variants affect the volumes of seven subcortical brain regions and intracranial volume.
- To identify novel genetic loci associated with subcortical brain structure.
- To understand the specific volumetric effects of genetic variants on brain structures.
Main Methods:
- Genome-wide association studies (GWAS) were performed on magnetic resonance imaging (MRI) data.
- Data included 30,717 individuals from 50 independent cohorts.
- Analysis focused on the volumes of seven subcortical regions and intracranial volume.
Main Results:
- Five novel genetic variants influencing the volumes of the putamen and caudate nucleus were identified.
- Stronger evidence was found for three loci previously linked to hippocampal and intracranial volume.
- Variants demonstrated specific volumetric effects, with the strongest impact on putamen volume, affecting KTN1 gene expression.
Conclusions:
- Genetic variants play a specific role in the volumetric regulation of human subcortical brain structures.
- The identified variants provide insights into the genetic basis of human brain development variability.
- Understanding these genetic underpinnings may elucidate mechanisms of neuropsychiatric dysfunction.
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