The most extensive investigation into brain genetics to date has identified more than 4,000 genetic variations linked to the structure of the brain. This comprehensive research, which utilized MRI scans from both adults and children, disclosed that distinct sets of genes play a role in the folding and size of the cortex. Additionally, numerous genes connected to brain size in the general population were found to overlap with genes associated with certain cephalic conditions, offering insights into the genetic underpinnings of brain development and their potential impact on neurological and psychiatric disorders.
The University of Cambridge-led research project, the largest of its kind involving the analysis of around 36,000 brain scans, has pinpointed over 4,000 genetic factors tied to brain structure. The outcomes of this study, recently published in the journal Nature Genetics, are particularly significant due to the intricate nature of the human brain and the considerable variations in its attributes, such as overall volume, folding patterns, and fold thickness, among individuals. Our understanding of how our genetic composition shapes brain development remains limited.
To address this knowledge gap, a team of researchers from the Autism Research Centre at the University of Cambridge accessed MRI scans from over 32,000 adults in the UK Biobank cohort and more than 4,000 children from the US-based ABCD study. From these scans, the team measured various properties of the brain’s outermost layer, known as the cortex, encompassing measurements of its area, volume, and folding patterns.
By connecting these attributes, evaluated across both the entire cortex and 180 individual regions, with genetic data from the entire genome, the team identified more than 4,000 genetic variations linked to brain structure. These findings have enabled researchers to verify and, in certain instances, identify the genetic connections between different brain properties.
Dr. Varun Warrier, co-lead of the study from the Autism Research Centre, explained, “One question that has intrigued us is whether the genes responsible for determining the size of the cortex – measured by volume and area – also play a role in its folding. Through the measurement of these diverse brain properties and their correlation with genetics, we have discovered that distinct sets of genes contribute to both the folding and size of the cortex.”
The researchers also explored whether the genes linked to brain size variation in the general population coincide with those connected to clinical conditions featuring significantly larger or smaller head sizes, known as cephalic conditions.
Co-lead Dr. Richard Bethlehem, also from the Autism Research Centre, noted, “Many of the genes associated with brain size differences in the general population are also connected to genes implicated in cephalic conditions. However, we are still in the process of uncovering how precisely these genes lead to changes in brain size.”
Dr. Warrier added, “This study demonstrates that the development of our brain is partially influenced by genetics. Our findings can contribute to a better understanding of how alterations in brain shape and size can contribute to neurological and psychiatric disorders, potentially leading to improved treatment and support for those affected.”
This research received support from the Wellcome Trust and was carried out in collaboration with the NIHR CLAHRC for Cambridgeshire and Peterborough NHS Foundation Trust, as well as the NIHR Cambridge Biomedical Research Centre.
Table of Contents
Frequently Asked Questions (FAQs) about Brain Genetics
What does the largest-ever brain genetics study reveal?
The largest-ever study of brain genetics has uncovered over 4,000 genetic variants associated with brain structure. Through MRI scans of both adults and children, the research demonstrates that diverse sets of genes influence the folding and size of the cortex. Furthermore, it highlights an overlap between genes linked to brain size in the general population and those associated with cephalic conditions, shedding light on the genetic basis of brain development and its relevance to neurological and psychiatric conditions.
How was the study conducted?
The study involved analyzing approximately 36,000 brain scans using MRI technology. Researchers, led by the University of Cambridge, accessed MRI scans from over 32,000 adults in the UK Biobank cohort and more than 4,000 children from the ABCD study in the US. The team measured various attributes of the cortex, including its area, volume, and folding patterns, and correlated these attributes with genetic data from the entire genome.
What is the significance of identifying genetic variants related to brain structure?
Identifying genetic variants linked to brain structure provides valuable insights into how our genes contribute to the development of the brain. This knowledge has implications for understanding the genetic basis of various brain-related conditions, including neurological and psychiatric disorders. By establishing connections between genetic factors and brain properties, researchers aim to improve treatments and support for individuals affected by these conditions.
How do the findings relate to brain size and folding patterns?
The research confirms that different sets of genes are responsible for both the size and folding of the cortex. This suggests a complex interplay between genetics and the intricate features of the brain. By studying the relationships between genetic factors and brain attributes, researchers gain a better understanding of how variations in brain size and folding can contribute to various neurological and psychiatric conditions.
What are cephalic conditions, and why are they important in this study?
Cephalic conditions refer to clinical conditions characterized by significantly larger or smaller head sizes compared to the general population. The study found an overlap between genes linked to brain size in the general population and those associated with cephalic conditions. This overlap underscores potential genetic connections between brain size variations across the population and extreme deviations from the norm, offering insights into the genetic underpinnings of brain development.
How could these findings impact medical research?
The study’s findings could pave the way for enhanced medical research and treatments for neurological and psychiatric conditions. By identifying genetic factors influencing brain structure, researchers can gain deeper insights into the mechanisms underlying these conditions. This knowledge might lead to the development of targeted therapies and interventions aimed at addressing the genetic and structural components of brain-related disorders.
More about Brain Genetics
- Nature Genetics Journal
- University of Cambridge – Autism Research Centre
- UK Biobank
- ABCD Study
- Wellcome Trust
- NIHR CLAHRC for Cambridgeshire and Peterborough NHS Foundation Trust
- NIHR Cambridge Biomedical Research Centre
3 comments
big brain news! genes, MRI, brain shapes. cool brain genes, help sick brains? big study says maybe! interesting stuff, right?
cambridge did this brain thing, MRI pics of 36k brains, found DNA stuff, brain folds & size, same genes do both? head genes too? nice!
wow, this big brain gene study is like super mega cool! 4000+ gene things found, says MRI scans, tells us about brain parts. Genes for size & folds? Huh?