Associations Between Genetic Data and Quantitative Assessment of Normal Facial Asymmetry

Front Genet. 2018 Dec 18:9:659. doi: 10.3389/fgene.2018.00659. eCollection 2018.


Human facial asymmetry is due to a complex interaction of genetic and environmental factors. To identify genetic influences on facial asymmetry, we developed a method for automated scoring that summarizes local morphology features and their spatial distribution. A genome-wide association study using asymmetry scores from two local symmetry features was conducted and significant genetic associations were identified for one asymmetry feature, including genes thought to play a role in craniofacial disorders and development: NFATC1, SOX5, NBAS, and TCF7L1. These results provide evidence that normal variation in facial asymmetry may be impacted by common genetic variants and further motivate the development of automated summaries of complex phenotypes.

Keywords: 3DMD; GWAS; asymmetry; facial morphology; feature extraction.