Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci
文献类型：期刊论文
| 作者 | Li, Yi3,4; Xiong, Ziyi5,6; Zhang, Manfei2,3,7; Hysi, Pirro G.8; Qian, Yu1,4; Adhikari, Kaustubh9,10,11; Weng, Jun12,13; Wu, Sijie2,3,14; Du, Siyuan3,7,15; Gonzalez-Jose, Rolando16 |
| 刊名 | PLOS GENETICS
 |
| 出版日期 | 2023-07-01 |
| 卷号 | 19期号:7页码:25 |
| ISSN号 | 1553-7404 |
| DOI | 10.1371/journal.pgen.1010786 |
| 通讯作者 | Wang, Sijia(wangsijia@picb.ac.cn) ; Liu, Fan(f.liu@erasmusmc.nl) |
| 英文摘要 | Human ear morphology, a complex anatomical structure represented by a multidimensional set of correlated and heritable phenotypes, has a poorly understood genetic architecture. In this study, we quantitatively assessed 136 ear morphology traits using deep learning analysis of digital face images in 14,921 individuals from five different cohorts in Europe, Asia, and Latin America. Through GWAS meta-analysis and C-GWASs, a recently introduced method to effectively combine GWASs of many traits, we identified 16 genetic loci involved in various ear phenotypes, eight of which have not been previously associated with human ear features. Our findings suggest that ear morphology shares genetic determinants with other surface ectoderm-derived traits such as facial variation, mono eyebrow, and male pattern baldness. Our results enhance the genetic understanding of human ear morphology and shed light on the shared genetic contributors of different surface ectoderm-derived phenotypes. Additionally, gene editing experiments in mice have demonstrated that knocking out the newly ear-associated gene (Intu) and a previously ear-associated gene (Tbx15) causes deviating mouse ear morphology. Author summaryHuman ear morphology varies widely, with largely inherited differences. However, the genetic basis for these differences is not well understood. To better understand the genetics of human ear morphology, we analyzed 136 ear traits from digital facial images of 14,921 individuals from three continents using GWAS meta-analysis and the recently developed C-GWAS method. We identified 16 genetic loci associated with ear morphology, eight of which had not been previously associated with ear features. These genetic loci can serve as candidates for future research to understand the function of these genes. Additionally, we have demonstrated the impact of two ear-associated loci on ear morphology in gene-edited mice. This study provides new insights into the complex genetics of the human ear. |
| WOS关键词 | EXPRESSION ; IDENTIFICATION ; EDAR ; ANNOTATION ; EVOLUTION ; EDARV370A ; DATABASE ; VARIANT ; ATLAS ; HAIR |
| 资助项目 | Chinese Academy of Sciences[B13016] ; Chinese Academy of Sciences[2019M651352] ; Chinese Academy of Sciences[F/07 134/DF] ; Shanghai Municipal Science and Technology Major Project[BB/I021213/1] ; National Natural Science Foundation of China (NSFC) ; Science and Technology Service Network Initiative of Chinese Academy of Sciences ; Beijing Advanced Discipline Fund ; CAS Interdisciplinary Innovation Team Project ; Shanghai Science and Technology Commission Excellent Academic Leaders Program ; CAS Project for Young Scientists in Basic Research ; National Science amp; Technology Basic Research Project ; 111 Project ; China Postdoctoral Science Foundation ; Leverhulme Trust ; Biotechnology and Biological Sciences Research Council ; Erasmus MC ; Netherlands Organization for Scientific Research (NWO) ; Netherlands Organization for Health Research and Development (ZonMw) ; Research Institute for Diseases in the Elderly (RIDE) the Netherlands Genomics Initiative (NGI) ; Netherlands Genomics Initiative (NGI) ; Ministry of Education, Culture and Science ; Ministry of Health Welfare and Sport ; European Commission ; Municipality of Rotterdam ; Wellcome Trust ; Medical Research Council ; Versus Arthritis ; European Union Horizon 2020 ; Chronic Disease Research Foundation (CDRF) ; Zoe Ltd[B13016] ; National Institute for Health Research (NIHR) Clinical Research Network (CRN)[2019M651352] ; Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust[F/07 134/DF] ; King's College London[BB/I021213/1] ; BrightFocus Foundation ; Erasmus University Rotterdam ; [XDB38010400] ; [XDB38020400] ; [XDC01000000] ; [2017SHZDZX01] ; [81930056] ; [31521003] ; [31900408] ; [KFJ-STS-ZDTP-079] ; [22XD1424700] ; [YSBR-077] ; [2015FY111700] |
| WOS研究方向 | Genetics & Heredity |
| 语种 | 英语 |
| 出版者 | PUBLIC LIBRARY SCIENCE |
| WOS记录号 | WOS:001038767600001 |
| 资助机构 | Chinese Academy of Sciences ; Shanghai Municipal Science and Technology Major Project ; National Natural Science Foundation of China (NSFC) ; Science and Technology Service Network Initiative of Chinese Academy of Sciences ; Beijing Advanced Discipline Fund ; CAS Interdisciplinary Innovation Team Project ; Shanghai Science and Technology Commission Excellent Academic Leaders Program ; CAS Project for Young Scientists in Basic Research ; National Science amp; Technology Basic Research Project ; 111 Project ; China Postdoctoral Science Foundation ; Leverhulme Trust ; Biotechnology and Biological Sciences Research Council ; Erasmus MC ; Netherlands Organization for Scientific Research (NWO) ; Netherlands Organization for Health Research and Development (ZonMw) ; Research Institute for Diseases in the Elderly (RIDE) the Netherlands Genomics Initiative (NGI) ; Netherlands Genomics Initiative (NGI) ; Ministry of Education, Culture and Science ; Ministry of Health Welfare and Sport ; European Commission ; Municipality of Rotterdam ; Wellcome Trust ; Medical Research Council ; Versus Arthritis ; European Union Horizon 2020 ; Chronic Disease Research Foundation (CDRF) ; Zoe Ltd ; National Institute for Health Research (NIHR) Clinical Research Network (CRN) ; Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust ; King's College London ; BrightFocus Foundation ; Erasmus University Rotterdam |
| 源URL | [http://ir.ia.ac.cn/handle/173211/53840]  |
| 专题 | 多模态人工智能系统全国重点实验室 |
| 通讯作者 | Wang, Sijia; Liu, Fan |
| 作者单位 | 1.Beijing 8 High Sch, Beijing, Peoples R China 2.Fudan Univ, Human Phenome Inst, Zhangjiang Fudan Int Innovat Ctr, State Key Lab Genet Engn, Shanghai, Peoples R China 3.Chinese Acad Sci, Shanghai Inst Nutr & Hlth, CAS Key Lab Computat Biol, Beijing, Peoples R China 4.Chinese Acad Sci, Beijing Inst Genom, CAS Key Lab Genom & Precis Med, Beijing, Peoples R China 5.Univ Med Ctr, Dept Genet Identificat, Erasmus MC, Rotterdam, Netherlands 6.Univ Med Ctr, Dept Epidemiol, Erasmus MC, Rotterdam, Netherlands 7.Shanghai Jiao Tong Univ, BioX Inst, Key Lab Genet Dev & Neuropsychiat Disorders, Minist Educ, Shanghai, Peoples R China 8.Kings Coll London, Dept Twin Res & Genet Epidemiol, London, England 9.UCL, Dept Genet Evolut & Environm, London, England 10.UCL, UCL Genet Inst, London, England |
| 推荐引用方式 GB/T 7714 | Li, Yi,Xiong, Ziyi,Zhang, Manfei,et al. Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci[J]. PLOS GENETICS,2023,19(7):25. |
| APA | Li, Yi.,Xiong, Ziyi.,Zhang, Manfei.,Hysi, Pirro G..,Qian, Yu.,...&Liu, Fan.(2023).Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.PLOS GENETICS,19(7),25. |
| MLA | Li, Yi,et al."Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci".PLOS GENETICS 19.7(2023):25. |
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