Novel genetic loci affecting facial shape variation in humans

International Visible Trait Genetics (VisiGen) Consortium

Research output: Contribution to journalArticle (Academic Journal)

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Abstract

The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 × 10-8), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (padjusted < 2.1 × 10-3). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the face-associated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies.

Original languageEnglish
Article numbere49898
Number of pages32
JournaleLife
Volume8
Early online date25 Nov 2019
DOIs
Publication statusPublished - 11 Dec 2019

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  • Projects

    IEU: MRC Integrative Epidemiology Unit Quinquennial renewal

    Gaunt, L. F. & Davey Smith, G.

    1/04/1831/03/23

    Project: Research

    Cite this

    International Visible Trait Genetics (VisiGen) Consortium (2019). Novel genetic loci affecting facial shape variation in humans. eLife, 8, [e49898]. https://doi.org/10.7554/eLife.49898