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| 1 | Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction显示文摘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. | 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 | 2018 | Journal of Genetics and Genomics2018，45，8： | 7 |
| 2 | The HuaBiao project:whole-exome sequencing of 5000 Han Chinese individuals显示文摘Next-generation sequencing technologies have significantly accelerated the identification of disease-causing mutations and facilitated the emergence of personalized medicine(Genomes Project Consortium et al.,2015;Goodwin et al.,2016;Sirugo et al.,2019).In comparison with whole-genome sequencing,whole-exome sequencing(WES),which covers the coding regions of the genome,offers a cost-efficacy balance.WES provides deeper sequencing depth(>100)and allows the more accurate detection of rare variants that are tailored for clinical applications(Lek et al.,2016). | Meng Hao Weilin Pu Yi Li Shaoqing Wen Chang Sun Yanyun Ma Hongxiang Zheng Xingdong Chen Jingze Tan Guoqing Zhang Menghan Zhang Shuhua Xu Yi Wang Hui Li Jiucun Wang Li Jin | 2021 | Journal of Genetics and Genomics2021，48，11： | 2 |
| 3 | Large-scale genome-wide scans do not support petaloid toenail as a Mendelian trait显示文摘Petaloid toenail,or accessory nail of the fifth toe,is a physical trait characterized by the presence of an additional tiny toenail on the small toe.Since it can occasionally cause disfigurement and tenderness while wearing tight shoes or walking,standard surgical matricectomy is often carried out to repair the petaloid toenail(Chi and Wang,2004).Chinese legends recorded petaloid | Manfei Zhang Sijie Wu Juan Zhang Yajun Yang Jingze Tan Haijuan Guan Yu Liu Kun Tang Jean Krutmann Shuhua Xu Li Jin Yaqun Guan Hui Li Sijia Wang | 2016 | Journal of Genetics and Genomics2016，43，12： | 2 |
| 4 | Characteristics of dental morphology in the Xinjiang Uyghurs and correlation with the EDARV370A variant显示文摘Teeth are one of the most important materials for anthropological studies because they are likely to be preserved in ancient remains.While the frequencies of dental characteristics can provide clues to the phylogeny of populations,genetic studies at the individual level can further reveal the biological mechanisms and evolutionary context of dental characteristics.In this study,by analyzing 38 dental characteristics of 242 Xinjiang Uyghur individuals,we found that(i)the dental characteristics of the Uyghurs showed evidence of admixture between European and East Asian populations.The admixture proportions were in line with those previously reported in population genetic studies;(ii)the Xinjiang Uyghur dental characteristics formed three clusters in pairwise correlation analysis.One of the main clusters consisted of characteristics including incisor shoveling,double shoveling and mesial ridge;and(iii)all the characteristics in this cluster were significantly correlated with the genetic variant EDARV370A.The extracted composite phenotypic factor was also significantly associated with EDARV370A,which explained 18%of the total phenotypic variance.This indicated a pleiotropic effect,i.e.,the same genetic factor affects a number of dental characteristics at the same time.Our results confirmed that EDARV370A,a genetic variant that first originated in East Asia about 30000 years ago,played an important role in incisor shoveling in East Asia.This finding suggested that incisor shoveling in modern humans in East Asia is likely to have appeared after the late Pleistocene. | TAN JingZe PENG QianQian LI JinXi GUAN YaQun ZHANG LiPing JIAO Yi YANG YaJun WANG SiJia JIN Li | 2014 | Science China(Life Sciences)2014，57，5： | 2 |
| 5 | A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese显示文摘The human face is a heritable surface with many complex sensory organs.In recent years,many genetic loci associated with facial features have been reported in different populations,yet there is a lack of studies on the Han Chinese population.Here,we report a genome-wide association study of 3D normal human faces of 2,659 Han Chinese with autosegment phenotypes of facial morphology.We identify singlenucleotide polymorphisms(SNPs)encompassing four genomic regions showing significant associations with different facial regions,including SNPs in DENND1 B associated with the chin,SNPs among PISRT1 associated with eyes,SNPs between DCHS2 and SFRP2 associated with the nose,and SNPs in VPS13 B associated with the nose.We replicate 24 SNPs from previously reported genetic loci in different populations,whose candidate genes are DCHS2,SUPT3 H,HOXD1,SOX9,PAX3,and EDAR.These results provide a more comprehensive understanding of the genetic basis of variation in human facial morphology. | Yin Huang Dan Li Lu Qiao Yu Liu Qianqian Peng Sijie Wu Manfei Zhang Yajun Yang Jingze Tan Shuhua Xu Li Jin Sijia Wang Kun Tang Stefan Grunewald | 2021 | Journal of Genetics and Genomics2021，48，3： | 1 |
| 6 | Craniometrical evidence for population admixture between Eastern and Western Eurasians in Bronze Age southwest Xinjiang显示文摘Xinjiang,the most northwest provincial administrative area of China,was the area where the oriental people met the occidental.The populations in Xinjiang exhibit very high genetic diversity.Previous study revealed that the eastern Xinjiang populations of the Bronze Age were mixed by the Eastern and the Western Eurasians.However,few studies have been performed to reveal when the population admixture started and how far to the west it reached.In this paper,we studied 148 craniofacial traits of 18 skulls from the Bronze Age Liushui graveyard in Khotan(Keriya County) in the southwest of Xinjiang.Seventeen craniometrical parameters of the Khotan samples were then compared with those of other ancient samples from around Xinjiang using dendrogram cluster analysis,principal components analysis,and multidimensional scaling.The results indicated that population sample of Liushui graveyard was mixed by the Western and Eastern Eurasians with about 79% contribution from the east.Therefore,we demonstrated that population admixture between east and west Eurasia can be traced back to as early as 1000 BC in southwest Xinjiang. | TAN JingZe LI LiMing ZHANG JianBo FU WenQing , GUAN HaiJuan2, AO Xue2,WANG LingE1, WU XinHua3, HAN KangXin3, JIN Li1'2 & LI Hui1'2. FU WenQing GUAN HaiJuan AO Xue WANG LingE WU XinHua HAN KangXin JIN Li LI Hui | 2013 | Chinese Science Bulletin2013，58，3： | 1 |
| 7 | Genetic evidence supports demic diffusion of Han culture显示文摘 | LI Hui LU Daru SONG Xiufeng ZHANG Feng HE Yungang LI Feng GAO Yang MAO Xianyun ZHANG Liang QIAN Ji TAN Jingze JIN Jianzhong HUANG Wei DEKA Ranjan SU Bing CHAKRABORTY Ranajit JIN Li | | NATURE0，2004，： | 1 |
| 8 | De Novo Dissecting the Three‑Dimensional Facial Morphology of 2379 Han Chinese Individuals显示文摘Phenotypic diversity,especially that of facial morphology,has not been fully investigated in the Han Chinese,which is the largest ethnic group in the world.In this study,we systematically analyzed a total of 14,838 facial traits representing 15 categories with both a large-scale three-dimensional(3D)manual landmarking database and computer-aided facial segmented phenotyping in 2379 Han Chinese individuals.Our results illustrate that homogeneous and heterogeneous facial morphological traits exist among Han Chinese populations across the three geographical regions:Zhengzhou,Taizhou,and Nanning.We identifed 1560 shared features from extracted phenotypes,which characterized well the basic facial morphology of the Han Chinese.In particular,heterogeneous phenotypes showing population structures corresponded to geographical subpopulations.The greatest facial variation among these geographical populations was the angle of glabella,left subalare,and right cheilion(p=3.4×10^(−161)).Interestingly,we found that Han Chinese populations could be classifed into northern Han,central Han,and southern Han at the phenotypic level,and the facial morphological variation pattern of central Han Chinese was between the typical diferentiation of northern and southern Han Chinese.This result was highly consistent with the results revealed by the genetic data.These fndings provide new insights into the analysis of multidimensional phenotypes as well as a valuable resource for further facial phenotype-genotype association studies in Han Chinese and East Asian populations. | Hui Qiao Jingze Tan Shaoqing Wen Menghan Zhang Shuhua Xu Li Jin | 2024 | Phenomics2024，4，1： | 0 |
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