Abstract
It is a long standing question as which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population to query the genetic bases why Europeans and Han Chinese look different. Facial trait variations were analyzed based on high dense 3D facial images; numerous biometric spaces were examined for divergent facial features between European and Han Chinese, ranging from inner-landmarks to dense shape geometrics. A series of genome-wide association analyses were conducted on a discovery panel of Uyghurs. Six significant loci were identified and four of which, rs1868752, rs118078182, rs60159418 at or near UBASH3B, COL23A1, PCDH7 and rs17868256 were replicated in two independent cohorts of Uyghurs or Southern Han Chinese. We further developed a quantitative model to predict 3D faces based on 277 top GWAS SNPs. In hypothetic forensic scenarios, this model was found to significantly enhance the rate of suspect verification, suggesting a practical potential of related research.
