Effect of genetic variants in UBE2O and TPK1 on facial morphology of Koreans

: Human face is a highly heritable and complex trait. Many genome-wide analyses have identified genetic variants influencing facial morphology. Genome-wide association studies (GWASs) investigating facial morphologies of different populations provide a comprehensive insight into the genetic basis of the human face. Here, we report a GWAS of normal facial variation in Koreans using an array optimized for the Korean population (KoreanChip). We found that novel genetic variants encompassing four loci reached the genome-wide significance threshold. They include LOC107984547, UBE2O, TPK1, and LINC01148 loci associated with facial angle, brow ridge protrusion, nasal height, and eyelid curvature. Our results also validated previously published genetic loci, including FAT4, SOX9, and TBX3 loci. All confirmed genetic variants showed phenotypic differences involving each facial trait based on the effect of the minor allele. The present study highlights genetic signals associated with normal human facial variation and provides candidates for functional studies. KEY POINTS: GWAS of normal facial variation in the Korean population was conducted using a Korean genome chip. Previously reported genetic signals associated with FAT4, SOX9, and TBX3 loci were replicated in the Korean populations. Genetic signals in UBE2O and TPK1 loci were identified as novel variants for corresponding facial features.