Screen Of Genes Associated With Normal Skull Morphology Of Han Adults In Liaoning Province Based On Whole-exome Sequencing

ObjectiveIn this study,the skull CT data and blood of Liaoning Han adults were collected to obtain the skull morphological data and genotype data.The mutation sites were detected by Sanger sequencing to screen genes associated with normal skull morphology of Liaoning Han adults.It provides a theoretical basis for the study of skull morphology in the future.MethodsFifty CT datas were collected for three-dimensional reconstruction of skull.The data of skull morphology were obtained by geometric morphology measurement and the DNA was extracted from 2ml of blood.The genotype of subjects were obtained by whole-exome sequencing technology.A mixed linear model was constructed to calculate the association between morphology and gene loci.Variant SNP loci were obtained and candidate genes were screened.Then SNP was detected by Sanger sequencing.Finally,the related genes affecting the normal skull morphology were obtained.Results1.The result of association analysis between skull morphological data and genotype data showed that,Four SNP loci were significantly correlated with normal skull morphology of Liaoning Han adults(P<110^-6).The candidate genes for rs62152530 and rs647711 were RGPD3,IGSF3,and the candidate genes for rs1048603 and rs838543 were USP40.2.The results of Sanger Sequencing showed that,there were 50 cases of base mutation at the rs62152530 site,14 cases of base mutation at the rs647711 site,11 cases of base mutation at the rs1048603 site and 10 cases of base mutation at the rs838543 site.Conclusions1.The four SNP loci of rs62152530,rs647711,rs1048603 and rs838543,are associated with normal skull morphology in Liaoning Han adults.The candidate genes are RGPD3,IGSF3 and USP40.2.RGPD3,IGSF3 and USP40 may be closely related to the normal skull morphology of Liaoning Han adults.RGPD3 may be related to the distance between the left orbital frontal zygomatic point and the left frontal point,IGSF3may be related to the width of the bigonial breadth,and USP40 may be related to the simotic chord.