Genetic Analysis of Facial Shape and Appearance

As submitted by the proposer: Human appearance is a remarkably variable set of physical traits that together comprise the summation of many different externally visible characteristics. Of all externally visible characteristics, facial appearance is paradoxically the most morphologically variable and most distinctive. Human facial appearance is largely genetically determined, each of the many components that define overall facial shape and appearance likely determined by a multiplicity of genes, with environmental variables exerting increasing influence over time. Nevertheless, the striking similarity of facial appearance within families, often across many generations, suggests that certain key genes may exert particularly large effects on overall appearance. An ultimate goal of forensic science would be the ability to predict a virtual photographic representation of facial appearance from genomic DNA sequences derived from forensic specimens. Here, we propose to conduct basic research necessary to bring this goal to reality, aiming to discover the genetic basis of facial appearance. We are currently carrying out a comprehensive genomewide association study (GWAS), using 3D facial morphometric scans to analyze the genetics of facial shape in an African population. Here, we propose to extend these studies to the European-derived Caucasian (EUR) population, analyzing a collection of 3D morphometric scans and saliva samples for DNA from almost 800 normal subjects. We aim to determine whether the same genomic loci and underlying genetic variation found in the Tanzania study likewise contribute to facial shape variation in the EUR population. ca/ncf