Facial Phenotype Of Young Han Population In Liaoning Based On Whole-Exome Sequencing

ObjectiveIn this study,the facial phenotypes of young Han population in Liaoning were correlated with their genetic variants by using whole-exome sequencing technology to screen out the genes affecting the facial phenotype of young Han population in Liaoning to provide more theoretical foundations for anthropology,and forensic anthropology.MethodsFifty subjects meeting the experimental requirements were subjected to facial three-dimensional CT scan and peripheral venous blood collection.The CT data was imported into the VG Studio 2.2 Max for 3D reconstruction of facial phenotype,and then a marker point was selected for 3D coordinate measurement.The Euclidean distance calculation was performed in the Win EDMA Version 1.0.1 beta,and the measured coordinate points were performed and corrected in time.At the same time,the blood samples were sent for the whole-exon sequencing.The obtained facial phenotypic data was correlated with the exon sequencing gene data to select candidate genes,and further verified by Sanger sequencing.ResultsThe facial phenotypic data of the experimental subjects was correlated with the genotype data.After quality control,the results of the mutation detection were obtained.A total of 23011 SNPs were detected in the coding region in 50samples.The correlation between the phenotype of the skull and the variant site was calculated with the mixed linear model.The results showed that the three SNP loci were selected by Bonferroni correction and correlated with the normal facial phenotype of young Han population in Liaoning.According to the Sanger sequencing,the mutation results of the whole-exome sequencing were consistent.The three SNP mutations of RGPD3?2q12?rs62152530,IGSF3?1p13?rs647711,SLC28A3?9q21?rs10868138 were significantly associated with facial phenotype(P<1x10^-6).Sanger sequencing confirmed the results of three SNP site mutations.A missense mutation of C>T occurred at rs62152530?RGPD3?;a missense mutation of G>C occurred at rs647711?IGSF3?;a missense mutation of T>C occurred at rs10868138?SLC28A3?.Among them,the rs62152530 locus mutation of RGPD3 gene may be closely related to nasal length,ear length and nasal width;The rs647711 locus mutation of the IGSF3 gene may be closely related to nasal length;The rs10868138 site mutation of the SLC28A3 gene may be closely related to the length of the nose,the width of the nose,and the width of the tragus.Conclusions1.WES screened out three SNP locus mutations of rs62152530,rs647711and rs10868138,which were correlated with the facial phenotypes.2.RGPD3,IGSF3,SLC28A3 is closely related to the facial phenotype of young Han population in Liaoning,mainly with nasal length,ear length,nasal width and otoscope width.