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

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 

机构地区：[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

出　　处：《Journal of Genetics and Genomics》2018年第8期419-432,共14页遗传学报（英文版）

基　　金：funded by the Max-Planck-Gesellschaft Partner Group Grant (KT);the National Natural Science Foundation of China (Nos.31371267,31322030,91331108 (KT);91731303,31771388,and 31711530221 (SX);91631307 (SW);31501011 (YL) and 31260263 (YG));supported by Strategic Priority Research Program of the Chinese Academy of Sciences (CAS) (XDB13040100,SX;XDB13041000,SW);the National Science Fund for Distinguished Young Scholars (31525014,SX);the Program of Shanghai Academic Research Leader (16XD1404700,to SX);the support of a National Thousand Young Talents Award and a Max Planck-CAS Paul Gerson Unna Independent Research Group Leadership Award (SW);the Science and Technology Commission of Shanghai Municipality (16JC1400504,SW;14YF1406800,YL;16YF1413900,HL)

摘　　要：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.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 

分 类 号：Q987[生物学—遗传学]