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Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction
Authors:Lu Qiao  Yajun Yang  Pengcheng Fu  Sile Hu  Hang Zhou  Shouneng Peng  Jingze Tan  Yan Lu  Haiyi Lou  Dongsheng Lu  Sijie Wu  Jing Guo  Li Jin  Yaqun Guan  Sijia Wang  Shuhua Xu  Kun Tang
Institution:1. Chinese Academy of Sciences (CAS) Key Laboratory of Computational Biology, CAS-MPG Partner Institute for Computational Biology (PICB), Shanghai Institutes for Biological Sciences, University of Chinese Academy of Sciences, CAS, Shanghai 200031, China;2. State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology, School of Life Sciences, Fudan University, Shanghai 200433, China;3. Fudan-Taizhou Institute of Health Sciences, Taizhou 225300, China;4. Department of Neurology, The First People''s Hospital of Chenzhou, Hunan 423000, China;5. Collaborative Innovation Center of Genetics and Development, Shanghai 200438, China;6. Department of Biochemistry and Molecular Biology, Preclinical Medicine College, Xinjiang Medical University, Urumqi 830011, China;7. Center for Excellence in Animal Evolution and Genetics, Chinese Academy of Sciences, Kunming 650223, China;8. School of Life Science and Technology, ShanghaiTech University, Shanghai 201210, China
Abstract: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 studies(GWAS) were conducted on a discovery panel of Uyghurs. Six significant loci were identified, four of which, rs1868752, rs118078182, rs60159418 at or near UBASH3B, COL23A1, PCDH7 and rs17868256 were replicated in independent cohorts of Uyghurs or Southern Han Chinese. A prospective model was also developed to predict 3D faces based on top GWAS signals and tested in hypothetic forensic scenarios.
Keywords:Genome-wide association study  Dense 3D facial image  Ancestry-divergent phenotypes  Face prediction  Forensic scenario
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