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The genetics of the human face: identification of large effect single gene variants

By Daniel J M Crouch, Bruce Winney, Willem P Koppen, William J Christmas, Katarzyna Hutnik, Tammy Day, Devendra Meena, Abdelhamid Boumertit, Pirro Hysi, Ayrun Nessa, Tim D Spector, Josef Kittler, Walter F Bodmer

Posted 18 Jul 2017
bioRxiv DOI: 10.1101/165266 (published DOI: 10.1073/pnas.1708207114)

In order 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 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 1832 unique volunteers from the well characterised People of the British Isles study [1, 2] and 1567 unique twin images from the TwinsUK cohort (www.twinsuk.ac.uk), together with genetic data for 500,000 SNPs, we have identified three specific genetic variants with notable effects on facial profiles and eyes.

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