Genetic Influences on Brain Morphology and Function

This overview summarises how genetic variation shapes brain structure and activity, drawing on studies of normal development, twin designs and population cohorts. Genetic factors substantially contribute to individual differences in cortical and subcortical volumes, regional surface area and thickness, and white matter microstructure. Advances in imaging genetics combine high-resolution neuroimaging with genome-wide analyses, revealing that common variants explain a significant proportion of variance in brain morphology and functional connectivity. These insights illuminate biological pathways underlying neurodevelopmental trajectories, cognitive abilities and vulnerability to psychiatric illness. Integrating genetic mapping with longitudinal and cross-sectional designs has uncovered dynamic changes in heritability across the lifespan, with environmental modulation playing a complementary role. Such findings have global significance for personalised medicine, enabling risk stratification and informing interventions tailored to genetic profiles.

Research from Nature Portfolio

Recent studies have demonstrated substantial heritability of subcortical shape and structure across adulthood, revealing that genetic contributions extend beyond gross volume to finer morphological features. Analyses of large cohorts have mapped the heritability of seven bilateral subcortical nuclei, with estimates ranging from one third to over one half, and identified regional patterns of genetic influence that replicate across independent samples. Other work has delineated distinct genetic architectures for cortical and subcortical regions in older twins, uncovering clustered genetic correlations among lobar cortices, basal ganglia and limbic nuclei. This research highlights a complex but organised genetic landscape, showing that cortical thickness, surface area and subcortical shape are governed by partially overlapping genetic factors.

Genetic Influences on Brain Morphology and Function publication trend

The graph below shows the total number of articles in genetic influences on brain morphology and function across all publications each year (not limited to Nature Index journals).

Technical terms

Heritability: The proportion of variance in a trait attributable to genetic differences among individuals.

Imaging genetics: An approach combining neuroimaging and genomic data to identify genetic variants associated with brain structure or function.

Cortical thickness: The distance between the white matter boundary and pial surface of the cerebral cortex, reflecting cellular organisation.

Surface area: The measure of the exposed cortical sheet, indicative of neurodevelopmental expansion processes.

Fractional anisotropy: A diffusion imaging metric quantifying directional water diffusion, used as an index of white matter microstructure.

Pleiotropy: A genetic phenomenon where a single variant influences multiple phenotypic traits, such as brain volume and cognitive measures.

References

1. Genetic Influences on the Developing Young Brain and Risk for Neuropsychiatric Disorders. Biological Psychiatry (2023).
2. A Twin Study of Altered White Matter Heritability in Youth With Autism Spectrum Disorder. Journal of the American Academy of Child & Adolescent Psychiatry (2023).
3. Genetic and environmental influences on structural brain development from childhood to adolescence: A longitudinal twin study on cortical thickness, surface area, and subcortical volume. Developmental Cognitive Neuroscience (2024).
4. Heritability of the shape of subcortical brain structures in the general population. Nature Communications (2016).
5. Heritability of fractional anisotropy in human white matter: A comparison of Human Connectome Project and ENIGMA-DTI data. NeuroImage (2015).
6. What Twin Studies Tell Us About the Heritability of Brain Development, Morphology, and Function: A Review. Neuropsychology Review (2015).
7. Distinct Genetic Influences on Cortical and Subcortical Brain Structures. Scientific Reports (2016).