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

• Autores: Li, Yi; Xiong, Ziyi; Zhang, Manfei; Hysi, Pirro G.; Qian, Yu; Adhikari, Kaustubh; Weng, Jun; Wu, Sijie; Du, Siyuan; Gonzalez-Jose, Rolando; Schuler-Faccini, Lavinia; Bortolini, Maria Catira; Acuna Alonzo, Victor; Canizales Quinteros, Samuel; Gallo, Carla; Poletti, Giovanni; Bedoya, Gabriel; Rothhammer, Francisco; Wang, Jiucun; Tan, Jingze; Yuan, Ziyu; Jin, Li; Uitterlinden, André G.; Ghanbari, Mohsen; Ikram, M. Arfan; Nijsten, Tamar; Zhu, Xiangyu; Lei, Zhen; Jia, Peilin; Ruiz-Linares, Andres; Spector, Timothy D.; Wang, Sijia; Kayser, Manfred; Liu, Fan
• Año de publicación: 2023
• Idioma: inglés
• Tipo de recurso: artículo
• Materia: GENOMICS; LATIN AMERICAN POPULATIONS; EAR MORPHOLOGY; DEEP LEARNING
• Institución: Consejo Nacional de Investigaciones Científicas y Técnicas

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.
Fil: Li, Yi. Chinese Academy of Sciences; República de China. Shanghai Institute Of Nutrition And Health; China
Fil: Xiong, Ziyi. Erasmus University (erasmus University);
Fil: Zhang, Manfei. Fudan University; China. Shanghai Institute Of Nutrition And Health; China. Shanghai Jiao Tong University; China
Fil: Hysi, Pirro G.. Kings College London (kcl);
Fil: Qian, Yu. Chinese Academy of Sciences; República de China. Beijing No.8 High School; China
Fil: Adhikari, Kaustubh. Colegio Universitario de Londres; Reino Unido. The Open University (ou); Reino Unido
Fil: Weng, Jun. Chinese Academy of Sciences; República de China
Fil: Wu, Sijie. Fudan University; China. Fudan University; China. Shanghai Institute Of Nutrition And Health; China
Fil: Du, Siyuan. Shanghai Institute Of Nutrition And Health; China. Shanghai Jiao Tong University; China. Chinese Academy of Sciences; República de China
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
Fil: Schuler-Faccini, Lavinia. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Bortolini, Maria Catira. Universidade Federal do Rio Grande do Sul; Brasil
Fil: Acuna Alonzo, Victor. National School Of Anthropology And History; México
Fil: Canizales Quinteros, Samuel. Instituto Nacional de Medicina Genómica; México
Fil: Gallo, Carla. Universidad Peruana Cayetano Heredia; Perú
Fil: Poletti, Giovanni. Universidad Peruana Cayetano Heredia; Perú
Fil: Bedoya, Gabriel. Universidad de Antioquia; Colombia
Fil: Rothhammer, Francisco. Universidad de Tarapacá; Chile
Fil: Wang, Jiucun. Fudan University; China
Fil: Tan, Jingze. Fudan University; China
Fil: Yuan, Ziyu. Fudan-taizhou Institute Of Health Sciences; China
Fil: Jin, Li. Shanghai Institute Of Nutrition And Health; China. Fudan-taizhou Institute Of Health Sciences; China. Fudan University; China
Fil: Uitterlinden, André G.. Erasmus University (erasmus University);
Fil: Ghanbari, Mohsen. Erasmus University (erasmus University);
Fil: Ikram, M. Arfan. Erasmus University (erasmus University);
Fil: Nijsten, Tamar. Erasmus University (erasmus University);
Fil: Zhu, Xiangyu. Chinese Academy of Sciences; República de China
Fil: Lei, Zhen. Chinese Academy of Sciences; República de China
Fil: Jia, Peilin. Chinese Academy of Sciences; República de China
Fil: Ruiz-Linares, Andres. Aix-Marseille Universite; Francia. Fudan University; China. University College London; Estados Unidos
Fil: Spector, Timothy D.. Kings College London (kcl);
Fil: Wang, Sijia. Shanghai Institute Of Nutrition And Health; China. Chinese Academy of Sciences; República de China
Fil: Kayser, Manfred. Erasmus University (erasmus University);
Fil: Liu, Fan. Chinese Academy of Sciences; República de China. Erasmus University (erasmus University);