3D analysis and genome-wide association study on human facial morphology

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Genetic factors of human facial morphology are still unclear despite our awareness of its high heritability. In this study, we aimed to identify genetic polymorphisms associated with human facial morphology by a morphological study using a three-dimensional scanner and a genome-wide association study (GWAS) using DNA microarrays. We collected facial image data and blood or saliva specimens from healthy volunteers living in Okinawa, Japan. In the morphological analysis using 756 Japanese individuals, we found covariation patterns in faces and differences between Ryukyuans and mainland Japanese. Finally, we successfully identified single nucleotide polymorphisms associated with facial traits such as facial breath and lower facial height.