Genetic variants underlying differences in facial morphology in East Asian and European populations

A genome-wide study based on three-dimensional facial images identifies new loci associated with facial morphology in East Asian populations. Comparison with data from European populations identifies variants related to facial shape differences between these populations. Facial morphology-a conspicuous feature of human appearance-is highly heritable. Previous studies on the genetic basis of facial morphology were performed mainly in European-ancestry cohorts (EUR). Applying a data-driven phenotyping and multivariate genome-wide scanning protocol to a large collection of three-dimensional facial images of individuals with East Asian ancestry (EAS), we identified 244 variants in 166 loci (62 new) associated with typical-range facial variation. A newly proposed polygenic shape analysis indicates that the effects of the variants on facial shape in EAS can be generalized to EUR. Based on this, we further identified 13 variants related to differences between facial shape in EUR and EAS populations. Evolutionary analyses suggest that the difference in nose shape between EUR and EAS populations is caused by a directional selection, due mainly to a local adaptation in Europeans. Our results illustrate the underlying genetic basis for facial differences across populations.

Automated summary

A genome-wide study identified new genetic loci associated with facial morphology in East Asian populations and revealed the genetic basis for differences in facial shape between European and East Asian populations. The results suggest a significant genetic influence on facial shape and indicate that differences in facial features across populations may be due to local adaptation and directional selection.