Novel genetic loci affecting facial shape variation in humans
文献类型：期刊论文
| 作者 | Xiong, Ziyi30,31,32; Dankova, Gabriela30; de Jong, Markus A.30; Liu, Fan30,32; Kayser, Manfred30; Uitterlinden, Andre Prime G.31; Ikram, M. Arfan31; Li, Yi32; Howe, Laurence J.33; Lewis, Sarah33 |
| 刊名 | ELIFE
 |
| 出版日期 | 2019 |
| 卷号 | 8期号:-页码:e49898 |
| 关键词 | aging dynamic functional network connectivity graph theory Wechsler adult intelligence scale |
| ISSN号 | 2050-084X |
| DOI | 10.7554/eLife.49898 |
| 文献子类 | Article |
| 英文摘要 | The human face represents a combined set of highly heritable phenotypes, but knowledge on its genetic architecture remains limited, despite the relevance for various fields. A series of genome-wide association studies on 78 facial shape phenotypes quantified from 3-dimensional facial images of 10,115 Europeans identified 24 genetic loci reaching study-wide suggestive association (p < 5 x 10(-8)), among which 17 were previously unreported. A follow-up multi-ethnic study in additional 7917 individuals confirmed 10 loci including six unreported ones (P-adjusted < 2.1 x 10(-3)). A global map of derived polygenic face scores assembled facial features in major continental groups consistent with anthropological knowledge. Analyses of epigenomic datasets from cranial neural crest cells revealed abundant cis-regulatory activities at the faceassociated genetic loci. Luciferase reporter assays in neural crest progenitor cells highlighted enhancer activities of several face-associated DNA variants. These results substantially advance our understanding of the genetic basis underlying human facial variation and provide candidates for future in-vivo functional studies. |
| 学科主题 | Neurosciences & Neurology |
| WOS关键词 | GENOME-WIDE ASSOCIATION ; NONSYNDROMIC CLEFT-LIP ; NEURAL CREST ; SUSCEPTIBILITY LOCUS ; COMMON VARIATION ; PALATE ; IDENTIFY ; MODEL ; EVOLUTION ; ENHANCER |
| 语种 | 英语 |
| CSCD记录号 | CSCD:31763980 |
| WOS记录号 | WOS:000502300200001 |
| 出版者 | ELIFE SCIENCES PUBLICATIONS LTD |
| 版本 | 出版稿 |
| 源URL | [http://202.127.25.144/handle/331004/677]  |
| 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 Antioquia, GENMOL Genet Mol, Medellin, Colombia; 2.Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England; 3.Erasmus MC, Univ Med Ctr Rotterdam, Special Dent Care & Orthodont, Dept Oral & Maxillofacial Surg, Rotterdam, Netherlands; 4.Leiden Univ, Med Ctr, Dept Biomed Data Sci, Leiden, Netherlands; 5.QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia; 6.UCL, Dept Genet Evolut & Environm, London, England; 7.Chinese Acad Sci, CAS Key Lab Computat Biol, Shanghai, Peoples R China; 8.Chinese Acad Sci, CAS MPG Partner Inst Computat Biol PICB, Shanghai, Peoples R China; 9.Chinese Acad Sci, Shanghai Inst Biol Sci, Shanghai Inst Nutr & Hlth, Shanghai, Peoples R China; 10.Plast Surg Hosp, Dept Auricular Reconstruct, Beijing, Peoples R China; |
| 推荐引用方式 GB/T 7714 | Xiong, Ziyi,Dankova, Gabriela,de Jong, Markus A.,et al. Novel genetic loci affecting facial shape variation in humans[J]. ELIFE,2019,8(-):e49898. |
| APA | Xiong, Ziyi.,Dankova, Gabriela.,de Jong, Markus A..,Liu, Fan.,Kayser, Manfred.,...&,.(2019).Novel genetic loci affecting facial shape variation in humans.ELIFE,8(-),e49898. |
| MLA | Xiong, Ziyi,et al."Novel genetic loci affecting facial shape variation in humans".ELIFE 8.-(2019):e49898. |
入库方式： OAI收割
来源：上海营养与健康研究所
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