EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population
文献类型：期刊论文
| 作者 | Li, Yi1; Tao, Xianming1; Xiong, Ziyi1; Liu, Fan1; Zhao, Wenting2; Liu, Jing2; Zhang, Wei2; Ji, Anquan2; Li, Caixia2; Li, Dan3,4 |
| 刊名 | HUMAN GENETICS
 |
| 出版日期 | 2019 |
| 卷号 | 138期号:6页码:681-689 |
| ISSN号 | 0340-6717 |
| DOI | 10.1007/s00439-019-02023-7 |
| 文献子类 | Article |
| 英文摘要 | In human society, the facial surface is visible and recognizable based on the facial shape variation which represents a set of highly polygenic and correlated complex traits. Understanding the genetic basis underlying facial shape traits has important implications in population genetics, developmental biology, and forensic science. A number of single nucleotide polymorphisms (SNPs) are associated with human facial shape variation, mostly in European populations. To bridge the gap between European and Asian populations in term of the genetic basis of facial shape variation, we examined the effect of these SNPs in a European-Asian admixed Eurasian population which included a total of 612 individuals. The coordinates of 17 facial landmarks were derived from high resolution 3dMD facial images, and 136 Euclidean distances between all pairs of landmarks were quantitatively derived. DNA samples were genotyped using the Illumina Infinium Global Screening Array and imputed using the 1000 Genomes reference panel. Genetic association between 125 previously reported facial shape-associated SNPs and 136 facial shape phenotypes was tested using linear regression. As a result, a total of eight SNPs from different loci demonstrated significant association with one or more facial shape traits after adjusting for multiple testing (significance threshold p<1.28x10(-3)), together explaining up to 6.47% of sex-, age-, and BMI-adjusted facial phenotype variance. These included EDAR rs3827760, LYPLAL1 rs5781117, PRDM16 rs4648379, PAX3 rs7559271, DKK1 rs1194708, TNFSF12 rs80067372, CACNA2D3 rs56063440, and SUPT3H rs227833. Notably, the EDAR rs3827760 and LYPLAL1 rs5781117 SNPs displayed significant association with eight and seven facial phenotypes, respectively (2.39x10(-5) |
| 学科主题 | Genetics & Heredity |
| WOS关键词 | GENOME-WIDE ASSOCIATION ; FAT DISTRIBUTION ; LOCI ; HAIR ; IDENTIFICATION ; REPLICATION |
| 语种 | 英语 |
| WOS记录号 | WOS:000470684800012 |
| 出版者 | SPRINGER |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/569]  |
| 专题 | 中国科学院上海生命科学研究院营养科学研究所 |
| 作者单位 | 1.Univ Chinese Acad Sci, Chinese Acad Sci, Beijing Inst Genom, CAS Key Lab Genom & Precis Med, Beijing, Peoples R China; 2.Inst Forens Sci, Natl Engn Lab Forens Sci, Key Lab Forens Genet, Beijing, Peoples R China; 3.Chinese Acad Sci, CAS MPG Partner Inst, Shanghai, Peoples R China; 4.Chinese Acad Sci, Shanghai Inst Biol Sci, Key Lab Computat Biol, Shanghai, Peoples R China; 5.Univ Med Ctr Rotterdam, Erasmus MC, Dept Genet Identificat, Rotterdam, Netherlands, |
| 推荐引用方式 GB/T 7714 | Li, Yi,Tao, Xianming,Xiong, Ziyi,et al. EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population[J]. HUMAN GENETICS,2019,138(6):681-689. |
| APA | Li, Yi.,Tao, Xianming.,Xiong, Ziyi.,Liu, Fan.,Zhao, Wenting.,...&,.(2019).EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population.HUMAN GENETICS,138(6),681-689. |
| MLA | Li, Yi,et al."EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population".HUMAN GENETICS 138.6(2019):681-689. |
入库方式： OAI收割
来源：上海营养与健康研究所
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