Mostrar el registro sencillo del ítem
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
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Schuler-Faccini, Lavinia
dc.contributor.author
Bortolini, Maria Catira
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Acuna Alonzo, Victor
dc.contributor.author
Canizales Quinteros, Samuel
dc.contributor.author
Gallo, Carla
dc.contributor.author
Poletti, Giovanni
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
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.contributor.author
Spector, Timothy D.
dc.contributor.author
Wang, Sijia
dc.contributor.author
Kayser, Manfred
dc.contributor.author
Liu, Fan
dc.date.available
2023-10-24T14:59:53Z
dc.date.issued
2023-07
dc.identifier.citation
Li, Yi; Xiong, Ziyi; Zhang, Manfei; Hysi, Pirro G.; Qian, Yu; et al.; Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci; Public Library of Science; Plos Genetics; 19; 7; 7-2023; 1-25
dc.identifier.issn
1553-7390
dc.identifier.uri
http://hdl.handle.net/11336/215760
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.
dc.format
application/pdf
dc.language.iso
eng
dc.publisher
Public Library of Science
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.rights
info:eu-repo/semantics/openAccess
dc.rights.uri
https://creativecommons.org/licenses/by/2.5/ar/
dc.subject
GENOMICS
dc.subject
LATIN AMERICAN POPULATIONS
dc.subject
EAR MORPHOLOGY
dc.subject
DEEP LEARNING
dc.subject.classification
Genética y Herencia
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
Ciencias Biológicas
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.subject.classification
CIENCIAS NATURALES Y EXACTAS
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.title
Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci
dc.type
info:eu-repo/semantics/article
dc.type
info:ar-repo/semantics/artículo
dc.type
info:eu-repo/semantics/publishedVersion
dc.date.updated
2023-09-15T11:27:25Z
dc.journal.volume
19
dc.journal.number
7
dc.journal.pagination
1-25
dc.journal.pais
Estados Unidos
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.journal.ciudad
San Francisco
dc.description.fil
Fil: Li, Yi. Chinese Academy of Sciences; República de China. Shanghai Institute Of Nutrition And Health; China
dc.description.fil
Fil: Xiong, Ziyi. Erasmus University (erasmus University);
dc.description.fil
Fil: Zhang, Manfei. Fudan University; China. Shanghai Institute Of Nutrition And Health; China. Shanghai Jiao Tong University; China
dc.description.fil
Fil: Hysi, Pirro G.. Kings College London (kcl);
dc.description.fil
Fil: Qian, Yu. Chinese Academy of Sciences; República de China. Beijing No.8 High School; China
dc.description.fil
Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido. The Open University (ou); Reino Unido
dc.description.fil
Fil: Weng, Jun. Chinese Academy of Sciences; República de China
dc.description.fil
Fil: Wu, Sijie. Fudan University; China. Fudan University; China. Shanghai Institute Of Nutrition And Health; China
dc.description.fil
Fil: Du, Siyuan. Shanghai Institute Of Nutrition And Health; China. Shanghai Jiao Tong University; China. Chinese Academy of Sciences; República de China
dc.description.fil
Fil: Gonzalez-Jose, Rolando. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Centro Nacional Patagónico. Instituto Patagónico de Ciencias Sociales y Humanas; Argentina
dc.description.fil
Fil: Schuler-Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil
dc.description.fil
Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil
dc.description.fil
Fil: Acuna Alonzo, Victor. National School Of Anthropology And History; México
dc.description.fil
Fil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; México
dc.description.fil
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
dc.description.fil
Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú
dc.description.fil
Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia
dc.description.fil
Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile
dc.description.fil
Fil: Wang, Jiucun. Fudan University; China
dc.description.fil
Fil: Tan, Jingze. Fudan University; China
dc.description.fil
Fil: Yuan, Ziyu. Fudan-taizhou Institute Of Health Sciences; China
dc.description.fil
Fil: Jin, Li. Shanghai Institute Of Nutrition And Health; China. Fudan-taizhou Institute Of Health Sciences; China. Fudan University; China
dc.description.fil
Fil: Uitterlinden, André G.. Erasmus University (erasmus University);
dc.description.fil
Fil: Ghanbari, Mohsen. Erasmus University (erasmus University);
dc.description.fil
Fil: Ikram, M. Arfan. Erasmus University (erasmus University);
dc.description.fil
Fil: Nijsten, Tamar. Erasmus University (erasmus University);
dc.description.fil
Fil: Zhu, Xiangyu. Chinese Academy of Sciences; República de China
dc.description.fil
Fil: Lei, Zhen. Chinese Academy of Sciences; República de China
dc.description.fil
Fil: Jia, Peilin. Chinese Academy of Sciences; República de China
dc.description.fil
Fil: Ruiz-Linares, Andres. Aix-Marseille Universite; Francia. Fudan University; China. University College London; Estados Unidos
dc.description.fil
Fil: Spector, Timothy D.. Kings College London (kcl);
dc.description.fil
Fil: Wang, Sijia. Shanghai Institute Of Nutrition And Health; China. Chinese Academy of Sciences; República de China
dc.description.fil
Fil: Kayser, Manfred. Erasmus University (erasmus University);
dc.description.fil
Fil: Liu, Fan. Chinese Academy of Sciences; República de China. Erasmus University (erasmus University);
dc.journal.title
Plos Genetics
![Se ha confirmado la validez de este valor de autoridad por un usuario](/themes/CONICETDigital/images/authority_control/invisible.gif)
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1371/journal.pgen.1010786
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://journals.plos.org/plosgenetics/article?id=10.1371/journal.pgen.1010786
Archivos asociados