Human facial shape related SNP analysis in Han Chinese populations

Human facial morphology is one of the important visible biological characteristics. Understanding the genetic basis underlying facial shape traits has important implications in population genetics, developmental biology, and forensic science. This study extracted 136 Euclidean distance phenotypes from 17 facial features of high-resolution 3D facial images in 1177 Chinese Han adult males. Based on 3× low-depth sequencing data, linear regression was used to analyze the correlation between 125 reported SNPs significantly associated with facial morphology and 136 facial phenotypes. As a result, a total of twelve SNPs from ten genes demonstrated significant association with one or more facial shape traits after adjusting for multiple testing (significance threshold P < 1.35 × 10 -3 ), together explaining up to 3.89% of age-, and BMI-adjusted facial phenotype variance. These included TEX41 rs17479393, PAX3 rs974448, RAB7A/ACAD9 rs2977562, DCHS2 rs9995821, DCHS2 rs2045323, C5orf50 rs6555969, SUPT3H/RUNX2 rs1852985, MSRA rs11782517, EYA1 rs10504499, GSC rs2224309, DICER1 rs7161418 and DHX35 rs2206437.These results revealed the genetics basis of facial morphology of Han Chinese population, and provided reference data for DNA-based face prediction.