AbstractHuman facial diversity is substantial, complex, and largely scientifically unexplained. We used spatially dense quasi-landmarks to measure face shape in population samples with mixed West African and European ancestry from three locations (United States, Brazil, and Cape Verde). Using bootstrapped response-based imputation modeling (BRIM), we uncover the relationships between facial variation and the effects of sex, genomic ancestry, and a subset of craniofacial candidate genes. The facial effects of these variables are summarized as response-based imputed predictor (RIP) variables, which are validated using self-reported sex, genomic ancestry, and observer-based facial ratings (femininity and proportional ancestry) and judgments (sex and population group). By jointly modeling sex, genomic ancestry, and genotype, the independent effects of particular alleles on facial features can be uncovered. Results on a set of 20 genes showing significant effects on facial features provide support for this approach as a novel means to identify genes affecting normal-range facial features and for approximating the appearance of a face from genetic markers.
Link (Open Access)
......Since both categorical and continuous variables can be modeled using BRIM, this approach might be used to test for relationships between facial features and other factors, e.g., age, adiposity, and temperament. The methods illustrated here also provide for the development of diagnostic tools by modeling validated cases of overt craniofacial dysmorphology. Most directly, our methods provide the means of identifying the genes that affect facial shape and for modeling the effects of these genes to generate a predicted face. Although much more work is needed before we can know how many genes will be required to estimate the shape of a face in some useful way and many more populations need to be studied before we can know how generalizable the results are, these results provide both the impetus and analytical framework for these studies.....
Some interesting figures: