Shared heritability of human face and brain shape.

Area of Science:

• Neurogenetics
• Developmental Biology
• Human Genetics

Background:

• Coordinated development between the brain and face is suggested by model organisms and clinical genetics.
• The role of this developmental link in common genetic variation is not well understood.

Purpose of the Study:

• To investigate the genetic underpinnings of the relationship between brain and face shape.
• To identify shared genetic loci influencing both cortical surface morphology and facial structure.

Main Methods:

• A multivariate genome-wide association study (GWAS) was conducted on 19,644 individuals of European ancestry.
• Cortical surface morphology and facial shape were analyzed to identify associated genomic loci.

Main Results:

• 472 genomic loci influencing brain shape were identified, with 76 also linked to face shape.
• Shared loci involve transcription factors in craniofacial development and signaling pathways in brain-face cross-talk.
• Brain shape heritability is enriched near regulatory regions active in forebrain organoids and facial progenitors.
• No significant overlap was found between shared brain-face GWAS signals and variants affecting behavioral-cognitive traits.

Conclusions:

• The face and brain mutually influence each other during early embryogenesis via structural effects and paracrine signaling.
• This early developmental interplay does not seem to impact later brain development related to cognitive function.