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Updated: Jun 24, 2025
Rapid Detection of Neurodevelopmental Phenotypes in Human Neural Precursor Cells NPCs
Published on: March 2, 2018
Polygenic architecture of brain structure and function, behaviors, and psychopathologies in children
Yoonjung Yoonie Joo1,2,3, Eunji Lee1, Bo-Gyeom Kim1
1Department of Psychology, Seoul National University.
Insights
This study reveals genetic influences on brain structure and function in children, linking genetic profiles to cognitive abilities and some behaviors. While cognitive variability has a genetic basis, the genetics of many mental and behavioral traits remain unclear.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Childhood brain development involves critical structural and functional changes.
- Understanding the genetic basis of brain development is key to insights into cognition and behavior.
Purpose of the Study:
- To investigate the genetic architecture of brain development in preadolescent children.
- To explore relationships between genetic profiles, brain imaging phenotypes, and cognitive/behavioral traits.
Main Methods:
- Integrated brain imaging, genetic, and phenotype data from over 8,600 children.
- Utilized sparse generalized canonical correlation analysis (SGCCA) to identify covariation patterns.
- Analyzed genome-wide polygenic scores (GPSs) for traits, brain imaging-derived phenotypes (IDPs), and cognitive/psychological data.
Main Results:
- Found low-to-moderate SNP-based heritability in most IDPs, lower than in adults.
- Identified associations between GPSs for cognitive traits and brain structure (e.g., grey matter volume).
- Observed negative associations between GPSs for ADHD, depression, and neuroticism with brain structure.
- Linked educational attainment GPS to brain activation and BMI GPS to white matter integrity.
Conclusions:
- Genetic profiles significantly contribute to cognitive variability in preadolescence.
- The genetic underpinnings of many mental and behavioral phenotypes in children require further investigation.
- This study provides a comprehensive map of genetic influences on neuroanatomy and behavior during childhood.
Abstract:
The human brain undergoes structural and functional changes during childhood, a critical period in cognitive and behavioral development. Understanding the genetic architecture of the brain development in children can offer valuable insights into the development of the brain, cognition, and behaviors. Here, we integrated brain imaging-genetic-phenotype data from over 8,600 preadolescent children of diverse ethnic backgrounds using multivariate statistical techniques. We found a low-to-moderate level of SNP-based heritability in most IDPs, which is lower compared to the adult brain. Using sparse generalized canonical correlation analysis (SGCCA), we identified several covariation patterns among genome-wide polygenic scores (GPSs) of 29 traits, 7 different modalities of brain imaging-derived phenotypes (IDPs), and 266 cognitive and psychological phenotype data. In structural MRI, significant positive associations were observed between total grey matter volume, left ventral diencephalon volume, surface area of right accumbens and the GPSs of cognition-related traits. Conversely, negative associations were found with the GPSs of ADHD, depression and neuroticism. Additionally, we identified a significant positive association between educational attainment GPS and regional brain activation during the N-back task. The BMI GPS showed a positive association with fractional anisotropy (FA) of connectivity between the cerebellum cortex and amygdala in diffusion MRI, while the GPSs for educational attainment and cannabis use were negatively associated with the same IDPs. Our GPS-based prediction models revealed substantial genetic contributions to cognitive variability, while the genetic basis for many mental and behavioral phenotypes remained elusive. This study delivers a comprehensive map of the relationships between genetic profiles, neuroanatomical diversity, and the spectrum of cognitive and behavioral traits in preadolescence.
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