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Genome-wide variants of Eurasian facial shape differentiation and a prospective model of dNA based face prediction

Journal of Genetics and Genomics 2018年第8期45卷 419-432页

作者： 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 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 State Key Laboratory of Genetic Engineering and Ministry of Education Key Laboratory of Contemporary Anthropology School of Life Sciences Fudan University Shanghai 200433 China Fudan-Taizhou Institute of Health Sciences Taizhou 225300 China department of Neurology The First People's Hospital of Chenzhou Hunan 423000 China Collaborative Innovation Center of Genetics and development Shanghai 200438 China department of Biochemistry and Molecular Biology Preclinical Medicine College Xinjiang Medical University Urumqi 830011 China Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming 650223 China School of Life Science and Technology ShanghaiTech University Shanghai 201210 China

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 associ- ation studies （GWAS） were conducted on a discovery panel of Uyghurs, Six significant loci were iden- tified, 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.

关键词： Genome-wide association study dense 3d facial image Ancestry-divergent phenotypes Face prediction Forensic scenario

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