Genetics of the human face: Identification of large-effect single gene variants. DJM Crouch, B Winney, WP Koppen, WJ Christmas, K Hutnik, T Day, D Meena, A Boumertit, P Hysi, A Nessa, TD Spector, J Kittler, WF Bodmer.

Date: January 2018.
Source: People of the British Isles, Newsletter Issue 7.
Abstract: We have been studying the genetics underlying human facial features since the renewal of our PoBI grant from the Wellcome Trust in 2009. We have been doing this by going back to as many of the original volunteers as we could to obtain their 3D facial images and then combining the information on the face with the genetic information we have on the same volunteers. We have also, in collaboration with Professor Tim Spector and TwinsUK, obtained similar information on about 750 twin pairs, about half of whom were identical, (monozygous) twins and half non-identical (dizygous) twins. It has taken us much longer than we had expected to collect all the data we needed and then to do the complex analysis need to pull out the genetic information. Now, after more than 8 years of hard work (and nearly 40 years since first dreaming of the possibility of doing this) our first major paper on the genetics of the human face appeared on line on 4th January 2018 in the USA journal… Proceedings of the National Academy of Sciences. The following newsletter article describes the background to what we have done and how we did it.

Authors: Daniel JM 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. Department of Oncology, University of Oxford, Oxford, United Kingdom. Centre for Vision, Speech and Signal Processing, Department of Electronic Engineering, University of Surrey, Guildford, United Kingdom.