Heritability maps of human face morphology through large-scale automated three-dimensional phenotyping

Abstract

The human face is a complex trait under strong genetic control, as evidenced by the striking visual similarity between twins. Nevertheless, heritability estimates of facial traits have often been surprisingly low or difficult to replicate. Furthermore, the construction of facial phenotypes that correspond to naturally perceived facial features remains largely a mystery. We present here a large-scale heritability study of face geometry that aims to address these issues. High-resolution, three-dimensional facial models have been acquired on a cohort of 952 twins recruited from the TwinsUK registry, and processed through a novel landmarking workflow, GESSA (Geodesic Ensemble Surface Sampling Algorithm). The algorithm places thousands of landmarks throughout the facial surface and automatically establishes point-wise correspondence across faces. These landmarks enabled us to intuitively characterize facial geometry at a fine level of detail through curvature measurements, yielding accurate heritability maps of the human face (www.heritabilitymaps.info).

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

“…Since the 1950s, numerous studies have attempted to estimate the heritability of simple anthropometric or cephalometric measurements of the craniofacial complex . Some more recent studies with access to large 3D facial data sets have employed more advanced morphometric methods in an effort to better quantify complex aspects of soft‐tissue facial morphology . Collectively, these studies report a wide range of heritability estimates, even when the same measurement is considered, making generalizations difficult.…”

“…[6][7][8] Some more recent studies with access to large 3D facial data sets have employed more advanced morphometric methods in an effort to better quantify complex aspects of soft-tissue facial morphology. 9,10 Collectively, these studies report a wide range of heritability estimates, even when the same measurement is considered, making generalizations difficult. However, virtually all of these studies report high heritability (h 2 > 60%) for at least a subset of facial traits, with the majority of traits typically falling in the moderate heritability range.…”

Same father, same face: deep-learning reveals paternally-derived signalling of kinship in a wild primate

“…In humans, for example, facial traits are both the most morphologically variable and the most singular and recognizable features of the physical appearance 12 . Facial traits are also highly heritable, some showing more than 90% of genetic heritability 4,5 , resulting in elevated facial similarity among relatives, including across generations. As such, both human or non-human primate subjects scored genetic relatedness from faces at the intra-specific 6,7,13,14 or inter-specific 15,16 levels.…”

“… ABSTRACT Animal faces convey important information such as individual health status 1 or identity 2,3 . Human and nonhuman primates rely on highly heritable facial traits 4,5 to recognize their kin 6–8 . However, whether these facial traits have evolved for this specific function of kin recognition remains unknown.…”

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

“…Using these additive genetic values, we then base our analysis on genetically comparing individuals who lie in the extremes of the phenotypic distributions with those who do not. We used a portable version of the 3dMD camera system to obtain 3 dimensional (3D) images of 1832 unique volunteers from the very well characterised People of the British Isles study [1,2] and 1567 unique twin images from the TwinsUK cohort, previously used to analyse the heritability of facial phenotypes derived in various ways from the camera measurements [13] (www.twinsuk.ac.uk). For most of these individuals we had genetic data for at least 500,000 SNPs.…”