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

Abstract

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. Significance statementThe human face is extraordinarily variable and the extreme similarity of the faces of identical twins indicates that most of this variability is genetically determined. This level of genetic variability has probably arisen through natural selection, for example, for recognition of membership of a group or as a consequence of differential mate selection with respect to facial features. We have devised an approach to identifying specific genetic effects on particular facial features. This should enable the understanding, eventually at the molecular level, of the nature of this extraordinary genetic variability, which is such an important feature of our everyday human interactions.Author Contributions WFB conceived the project. BW and TD organised collection of PoBI data and KH, DJMC, DM, AB and WFB assisted in data collection. TDS, PH and AN collected TwinsUK data. WPK and WJC conducted image registration analysis under supervision of JK. DJMC analysed registered image data and genetic data under supervision of WFB. WFB and DJMC wrote the manuscript, with WJC and WPK contributing additional technical material. WFB and BW supervised the project.

Hunting for genes that shape human faces: Initial successes and challenges for the future

“…One downside of GWAS, however, is that the burden for statistical significance is very stringent due to the multiple test correction. To date, there have been nine GWAS focused on quantifiable aspects of human craniofacial morphology . The main characteristics and results of these studies are summarized in Table .…”

Gizakiaren aurpegiaren ezaugarri fenotipikoei loturiko aldakortasun genetikoaren analisia

“…SNPak, nukleotido bakarreko polimorfismoak dira, hots, genomaren base bakar batean eragina duen aldaketa. Zenbait ikertzailek SNP ezberdinek aurpegiko zein ezaugarritan duten eragina identifikatu dute [8][9][10][11][12]. Lan honetan, SNP horien efektuzko aleloak munduko populazioetan nola banatzen diren jakinda, PRS (Poligenic Risk Score) [13][14] balioaren bidez, populazio ezberdinetan aurpegiaren, eta adibide zehatz moduan sudurraren morfologiaren loturiko ezaugarriak aztertuz, ea populazioak bereizten diren aztertu dugu.…”