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GWAS Study

Shared heritability of human face and brain shape.

Naqvi S, Sleyp Y, Hoskens H et al.

33821002 PubMed ID
GWAS Study Type
19670 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

NS
Naqvi S
SY
Sleyp Y
HH
Hoskens H
IK
Indencleef K
SJ
Spence JP
BR
Bruffaerts R
RA
Radwan A
ER
Eller RJ
RS
Richmond S
SM
Shriver MD
SJ
Shaffer JR
WS
Weinberg SM
WS
Walsh S
TJ
Thompson J
PJ
Pritchard JK
SS
Sunaert S
PH
Peeters H
WJ
Wysocka J
CP
Claes P
Chapter II

Abstract

Summary of the research findings

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.

19,670 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

19670
Total Participants
GWAS
Study Type
No
Replicated
European
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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