Detecting Genome-wide Variants of Eurasian Facial Shape Differentiation: DNA based Face Prediction Tested in Forensic Scenario

It is a long standing question as to which genes define the characteristic facial features among different ethnic groups. In this study, we use Uyghurs, an ancient admixed population to query the genetic bases why Europeans and Han Chinese look different. Facial traits were analyzed based on high-dense 3D facial images; numerous biometric spaces were examined for divergent facial features between European and Han Chinese, ranging from inter-landmark distances to dense shape geometrics. Genome-wide association analyses were conducted on a discovery panel of Uyghurs. Six significant loci were identified four of which, rs1868752, rs118078182, rs60159418 at or near <i>UBASH3B</i>, <i>COL23A1</i>, <i>PCDH7 </i>and rs17868256 were replicated in independent cohorts of Uyghurs or Southern Han Chinese. A quantitative model was developed to predict 3D faces based on 277 top GWAS SNPs. In hypothetic forensic scenarios, this model was found to significantly enhance the verification rate in males, suggesting a practical potential of related research.

不同族群间塑造特征性面部表型的基因究竟为何，是长期以来悬而未决的科学问题。本研究以古代混血族群维吾尔族为研究对象，探究欧洲人与汉族人面部外观存在差异的遗传基础。研究基于高密度三维面部图像开展面部性状分析，针对欧洲人与汉族人间存在差异的面部特征，从解剖标记点间距到密集形状几何特征等多个生物特征空间维度进行了系统分析。本研究对维吾尔族发现队列开展全基因组关联分析（Genome-wide Association Study, GWAS），共鉴定得到6个显著位点；其中4个位点——rs1868752、rs118078182、rs60159418（分别位于UBASH3B、COL23A1、PCDH7基因内或其附近）以及rs17868256，在独立的维吾尔族或南方汉族队列中得到了验证。本研究基于277个排名靠前的全基因组关联分析单核苷酸多态性（Single Nucleotide Polymorphism, SNP）构建了三维面部表型预测的定量模型。在假设的法医场景中，该模型可显著提升男性样本的身份验证准确率，表明相关研究具备实际应用潜力。