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To discover specific variants with relatively large effects on the human face, we have devised an approach to identifying facial features with high heritability. This is based on using twin data to estimate the additive genetic value of each point on a face, as provided by a 3D camera system. In addition, we have used the ethnic difference between East Asian and European faces as a further source of face genetic variation. We use principal components (PCs) analysis to provide a fine definition of the surface features of human faces around the eyes and of the profile, and chose upper and lower 10% extremes of the most heritable PCs for looking for genetic associations. Using this strategy for the analysis of 3D images of 1,832 unique volunteers from the well-characterized People of the British Isles study and 1,567 unique twin images from the TwinsUK cohort, together with genetic data for 500,000 SNPs, we have identified three specific genetic variants with notable effects on facial profiles and eyes.

Original publication

DOI

10.1073/pnas.1708207114

Type

Journal article

Journal

Proc Natl Acad Sci U S A

Publication Date

23/01/2018

Volume

115

Pages

E676 - E685

Keywords

3D imaging, SNPs, additive genetic value, facial features, human genetics, Cadherins, Face, Female, Humans, Male, Membrane Proteins, Polymorphism, Single Nucleotide, Principal Component Analysis, Proprotein Convertases, Quantitative Trait, Heritable, Serine Endopeptidases