In one of the largest studies examining DNA and brain volume, researchers have identified 254 genetic variants that influence critical structures in the “deep brain,” which are essential for memory, motor skills, and addictive behaviors.
These findings, published in Nature Genetics, stem from the Enhancing Neuro Imaging Genetics through Meta-Analysis (ENIGMA) consortium, an international collaboration involving over 1,000 research labs across 45 countries.
Paul M. Thompson, PhD, the principal investigator for ENIGMA, explained that while many brain diseases are known to have a genetic component, this research aims to pinpoint specific genetic changes responsible for these conditions.
“By conducting this research globally, we’re starting to uncover what has been called ‘the genetic essence of humanity,’” he noted.
The study analysed DNA samples and MRI brain scans from 74,898 participants, focusing on key subcortical regions such as the hippocampus, amygdala, and thalamus.
Through genome-wide association studies (GWAS), researchers linked certain gene variants to brain volume differences, revealing associations with increased risk for Parkinson’s disease and attention-deficit/hyperactivity disorder (ADHD).
Miguel Rentería, PhD, a principal investigator of the study, emphasised that understanding the genetic influences on brain structure is crucial for developing effective treatments for these disorders.
The research demonstrated that genetic variants could explain up to 10% of the observed differences in brain volume among participants.
Thompson said this study is the first to precisely identify where these genes act in the brain, creating a roadmap for potential interventions. However, as the research is correlational, further studies are needed to establish causal links between specific genes and diseases.
The research team included doctoral candidate Luis García-Marín and postdoctoral researcher Adrian Campos, PhD, who contributed significantly to the study, which also utilised data from other large-scale projects like the UK Biobank and the Adolescent Brain Cognitive Development (ABCD) study.
