Whole-exome sequencing identified four loci influencing craniofacial morphology in northern Han Chinese

Facial shape differences are one of the most significant phenotypes in humans. It is affected largely by skull shape. However, research into the genetic basis of the craniofacial morphology has rarely been reported. The present study aimed to identify genetic variants influencing craniofacial morphology in northern Han Chinese through whole-exome sequencing (WES). Phenotypic data of the volunteers’ faces and skulls were obtained through three-dimensional CT scan of the skull. A total of 48 phenotypes (35 facial and 13 cranial phenotypes) were used for the bioinformatics analysis. Four genetic loci were identified affecting the craniofacial shapes. The four candidate genes are RGPD3 , IGSF3 , SLC28A3, and USP40 . Four single-nucleotide polymorphism (SNP) site mutations in RGPD3 , IGSF3, and USP40 were significantly associated with the skull shape ( p