Abstract
Human facial morphology varies considerably among individuals and can be influenced by gene polymorphisms. We explored the effects of single nucleotide polymorphisms (SNPs) on facial features in the Uygur youth population of the Kashi area in Xinjiang, China. Saliva samples were collected from 578 volunteers, and 10 SNPs previously associated with variations in facial physiognomy were genotyped. In parallel, 3D images of the subjects’ faces were obtained using grating facial scanning technology. After delimitation of 15 salient landmarks, the correlation between SNPs and the distances between facial landmark pairs was assessed. Analysis of variance revealed that ENPP1 rs7754561 polymorphism was significantly associated with RAla-RLipCn and RLipCn-Sbn linear distances (p = 0.044 and p = 0.012, respectively) as well as RLipCn-Stm curve distance (p = 0.042). The GHR rs6180 polymorphism correlated with RLipCn-Stm linear distance (p = 0.04), while the GHR rs6184 polymorphism correlated with RLipCn-ULipP curve distance (p = 0.047). The FGFR1 rs4647905 polymorphism was associated with LLipCn-Nsn linear distance (p = 0.042). These results reveal that ENPP1 and FGFR1 influence lower anterior face height, the distance from the upper lip to the nasal floor, and lip shape. FGFR1 also influences the lower anterior face height, while GHR is associated with the length and width of the lip.
Highlights
Facial features and expressions are key elements of non-verbal communication and mutual identification, and show significant particularities and differences between individuals
We explored the effects of single nucleotide polymorphisms (SNPs) on facial features in the Uygur youth population of the Kashi area in Xinjiang, China
The GHR rs6180 polymorphism correlated with Right lip corner (RLipCn)-Stm linear distance (p = 0.04), while the GHR rs6184 polymorphism correlated with RLipCn-Upper lip point (ULipP) curve distance (p = 0.047)
Summary
Facial features and expressions are key elements of non-verbal communication and mutual identification, and show significant particularities and differences between individuals. The possible association between gene polymorphisms and facial morphology, related in particular to differences in facial features among ethnic groups, has become an attractive research topic. FGFR1 (fibroblast growth factor receptor 1) affects normal facial morphology development in humans, and is associated with the cephalic index in multiple populations [11]. Guo et al [12] analyzed high-resolution 3D images of soft-tissue facial forms in four Eurasian populations, including Han Chinese, Tibetans, Uygur and Europeans. Their results showed that among-population differentiation was higher for soft-tissue facial forms than for genome-wide genetic loci. We used a high-resolution 3D image acquisition system to study the effect of SNPs on facial morphology in a sample of the Uygur population
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