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Shared heritability of human face and brain shape

NCJ Number
Nature Genetics Volume: 53 Dated: 2021 Pages: 830–839
Date Published
April 2021
10 pages

This article presents research into the connection between embryogenetic brain and face development, and potential impact on brain development and cognitive function.


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. The authors 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, the authors 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. (Published Abstract Provided)

Date Published: April 1, 2021