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Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci

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dc.contributor.author Li, Yi
dc.contributor.author Xiong, Ziyi
dc.contributor.author Zhang, Manfei
dc.contributor.author Hysi, Pirro G.
dc.contributor.author Qian, Yu
dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Weng, Jun
dc.contributor.author Wu, Sijie
dc.contributor.author Du, Siyuan
dc.contributor.author Gonzalez-Jose, Rolando
dc.contributor.author Schuler-Faccini, Lavinia
dc.contributor.author Bortolini, Maria-Catira
dc.contributor.author Acuna-Alonzo, Victor
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti Ferrara, Giovanni Angelo
dc.contributor.author Bedoya, Gabriel
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Wang, Jiucun
dc.contributor.author Tan, Jingze
dc.contributor.author Yuan, Ziyu
dc.contributor.author Jin, Li
dc.contributor.author Uitterlinden, André G.
dc.contributor.author Ghanbari, Mohsen
dc.contributor.author Ikram, M. Arfan
dc.contributor.author Nijsten, Tamar
dc.contributor.author Zhu, Xiangyu
dc.contributor.author Lei, Zhen
dc.contributor.author Jia, Peilin
dc.contributor.author Ruiz-Linares, Andres
dc.contributor.author Spector, Timothy D.
dc.contributor.author Wang, Sijia
dc.contributor.author Kayser, Manfred
dc.contributor.author Liu, Fan
dc.date.accessioned 2023-10-09T17:09:16Z
dc.date.available 2023-10-09T17:09:16Z
dc.date.issued 2023
dc.identifier.uri https://hdl.handle.net/20.500.12866/14211
dc.description.abstract 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. en_US
dc.language.iso eng
dc.publisher PLoS
dc.relation.ispartofseries PLOS Genetics
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Ears en_US
dc.subject Genetic loci en_US
dc.subject Face en_US
dc.subject Phenotypes en_US
dc.subject Mouse models en_US
dc.subject Genome-wide association studies en_US
dc.subject Genetics en_US
dc.subject Single nucleotide polymorp en_US
dc.title Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1371/journal.pgen.1010786
dc.relation.issn 1553-7404


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