Summary: Researchers have identified 76 overlapping genetic locations that influence both human face and brain shape. The genetic signals linking face and brain shape are concentrated in genomic regions that regulate gene activity during embryonic development.
Source: KU Leuven
An interdisciplinary team led by KU Leuven and Stanford has mapped shared genetic influences on face and brain shape, finding 76 genomic locations that affect both. Crucially, the study found no evidence that this genetic overlap predicts behavioural or cognitive traits, nor does it support claims that facial features reveal a person’s mental health or personality. These results counter longstanding pseudoscientific assertions about reading character from faces.
Previous evidence for a genetic connection between facial form and brain morphology came mostly from model organisms and rare clinical syndromes, explains Professor Peter Claes of KU Leuven’s Laboratory for Imaging Genetics, who shares senior authorship on the study with Professor Joanna Wysocka of Stanford. Their goal was to examine this relationship across common genetic variation in a general population sample.
Brain scans and DNA from the UK Biobank
The researchers extended a methodology previously used to link 3D facial landmarks to genetic variants. That earlier work identified multiple genes shaping facial structure by correlating detailed facial image measurements with genomic data. For the current analysis they applied analogous techniques to brain MRI data.
Using MRI scans and genotype information from roughly 20,000 participants in the UK Biobank (19,644 individuals of European ancestry in the core analysis), the team quantified variation in the external folded surface of the cerebral cortex—the familiar “walnut-like” pattern of gyri and sulci—and performed genome-wide association analyses on those measurements.
The study identified 472 genomic loci that influence brain shape, 351 of which are newly reported. Remarkably, 76 of the brain-shape loci had previously been associated with face shape, providing strong evidence for shared genetic architecture between the two structures. The overlapping loci include transcription factors and components of signaling pathways known to participate in craniofacial and brain development.
The authors also found that the genetic signals affecting both face and brain shape are enriched near regulatory regions that control gene activity during early embryogenesis—either in facial progenitor cells or in developing brain tissue. This enrichment is consistent with coordinated developmental programs in early embryos, where structural interactions and paracrine signaling guide simultaneous formation of face and brain.
No genetic link with behaviour or neuropsychiatric disorders
Equally important are the negative results: the overlap between face-shape and brain-shape genetics does not extend to behavioural or cognitive traits. Dr Sahin Naqvi of Stanford, first author on the study, emphasizes that genetic correlations tying facial form to brain morphology do not translate into predictive relationships with behaviour. In short, facial appearance cannot be used to infer personality, cognitive ability, or similar traits based on current genetic evidence.
The investigators explicitly reject efforts that claim to assess aggressive tendencies or other behavioural traits from faces—especially projects that apply artificial intelligence to make such inferences—stressing that those attempts are scientifically unfounded and ethically problematic.
The team also compared their findings to published genetic studies of neuropsychiatric conditions such as Alzheimer’s disease, schizophrenia, and bipolar disorder. While some brain-shape loci overlap with variants implicated in specific neuropsychiatric disorders, those overlaps do not extend to face-shape loci. Therefore, the research does not support the idea that risk for such disorders is reflected in facial structure.
This collaborative study involved KU Leuven, Stanford University School of Medicine, University of Pittsburgh, Pennsylvania State University, Indiana University Purdue University Indianapolis, Cardiff University, and George Mason University.
About this genetics research news
Source: KU Leuven
Contact: Peter Claes – KU Leuven
Image: The image is in the public domain
Original Research: Closed access.
“Shared heritability of human face and brain shape” by Sahin Naqvi, Yoeri Sleyp, Hanne Hoskens, Karlijne Indencleef, Jeffrey P. Spence, Rose Bruffaerts, Ahmed Radwan, Ryan J. Eller, Stephen Richmond, Mark D. Shriver, John R. Shaffer, Seth M. Weinberg, Susan Walsh, James Thompson, Jonathan K. Pritchard, Stefan Sunaert, Hilde Peeters, Joanna Wysocka & Peter Claes. Nature Genetics
Abstract
Shared heritability of human face and brain shape
Evidence from model organisms and clinical genetics suggests coordination between the developing brain and face, but the role of this link in common genetic variation remains unknown.
We performed a multivariate genome-wide association study of cortical surface morphology in 19,644 individuals of European ancestry, identifying 472 genomic loci influencing brain shape, of which 76 are also linked to face shape. Shared loci include transcription factors involved in craniofacial development, as well as members of signaling pathways implicated in brain–face cross-talk.
Brain shape heritability is equivalently enriched near regulatory regions active in either forebrain organoids or facial progenitors. However, we do not detect significant overlap between shared brain–face genome-wide association study signals and variants affecting behavioral–cognitive traits.
These results suggest that early in embryogenesis, the face and brain mutually shape each other through both structural effects and paracrine signaling, but this interplay may not impact later brain development associated with cognitive function.