Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.
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...
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Public Library of Science (PLoS)
2023-07-01
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| Series: | PLoS Genetics |
| Online Access: | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010786&type=printable |
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| author | Yi Li Ziyi Xiong Manfei Zhang Pirro G Hysi Yu Qian Kaustubh Adhikari Jun Weng Sijie Wu Siyuan Du Rolando Gonzalez-Jose Lavinia Schuler-Faccini Maria-Catira Bortolini Victor Acuna-Alonzo Samuel Canizales-Quinteros Carla Gallo Giovanni Poletti Gabriel Bedoya Francisco Rothhammer Jiucun Wang Jingze Tan Ziyu Yuan Li Jin André G Uitterlinden Mohsen Ghanbari M Arfan Ikram Tamar Nijsten Xiangyu Zhu Zhen Lei Peilin Jia Andres Ruiz-Linares Timothy D Spector Sijia Wang Manfred Kayser Fan Liu |
| author_facet | Yi Li Ziyi Xiong Manfei Zhang Pirro G Hysi Yu Qian Kaustubh Adhikari Jun Weng Sijie Wu Siyuan Du Rolando Gonzalez-Jose Lavinia Schuler-Faccini Maria-Catira Bortolini Victor Acuna-Alonzo Samuel Canizales-Quinteros Carla Gallo Giovanni Poletti Gabriel Bedoya Francisco Rothhammer Jiucun Wang Jingze Tan Ziyu Yuan Li Jin André G Uitterlinden Mohsen Ghanbari M Arfan Ikram Tamar Nijsten Xiangyu Zhu Zhen Lei Peilin Jia Andres Ruiz-Linares Timothy D Spector Sijia Wang Manfred Kayser Fan Liu |
| author_sort | Yi Li |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-a2b816faee4b45d9a912189d96d227f4 |
| institution | Kabale University |
| issn | 1553-7390 1553-7404 |
| language | English |
| publishDate | 2023-07-01 |
| publisher | Public Library of Science (PLoS) |
| record_format | Article |
| series | PLoS Genetics |
| spelling | doaj-art-a2b816faee4b45d9a912189d96d227f42025-08-20T03:46:25ZengPublic Library of Science (PLoS)PLoS Genetics1553-73901553-74042023-07-01197e101078610.1371/journal.pgen.1010786Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci.Yi LiZiyi XiongManfei ZhangPirro G HysiYu QianKaustubh AdhikariJun WengSijie WuSiyuan DuRolando Gonzalez-JoseLavinia Schuler-FacciniMaria-Catira BortoliniVictor Acuna-AlonzoSamuel Canizales-QuinterosCarla GalloGiovanni PolettiGabriel BedoyaFrancisco RothhammerJiucun WangJingze TanZiyu YuanLi JinAndré G UitterlindenMohsen GhanbariM Arfan IkramTamar NijstenXiangyu ZhuZhen LeiPeilin JiaAndres Ruiz-LinaresTimothy D SpectorSijia WangManfred KayserFan LiuHuman 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.https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010786&type=printable |
| spellingShingle | Yi Li Ziyi Xiong Manfei Zhang Pirro G Hysi Yu Qian Kaustubh Adhikari Jun Weng Sijie Wu Siyuan Du Rolando Gonzalez-Jose Lavinia Schuler-Faccini Maria-Catira Bortolini Victor Acuna-Alonzo Samuel Canizales-Quinteros Carla Gallo Giovanni Poletti Gabriel Bedoya Francisco Rothhammer Jiucun Wang Jingze Tan Ziyu Yuan Li Jin André G Uitterlinden Mohsen Ghanbari M Arfan Ikram Tamar Nijsten Xiangyu Zhu Zhen Lei Peilin Jia Andres Ruiz-Linares Timothy D Spector Sijia Wang Manfred Kayser Fan Liu Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. PLoS Genetics |
| title | Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. |
| title_full | Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. |
| title_fullStr | Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. |
| title_full_unstemmed | Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. |
| title_short | Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci. |
| title_sort | combined genome wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci |
| url | https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1010786&type=printable |
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