TY - JOUR
T1 - Combined genome-wide association study of 136 quantitative ear morphology traits in multiple populations reveal 8 novel loci
AU - Li, Yi
AU - Xiong, Ziyi
AU - Zhang, Manfei
AU - Hysi, Pirro G.
AU - Qian, Yu
AU - Adhikari, Kaustubh
AU - Weng, Jun
AU - Wu, Sijie
AU - Du, Siyuan
AU - Gonzalez-Jose, Rolando
AU - Schuler-Faccini, Lavinia
AU - Bortolini, Maria Catira
AU - Acuna-Alonzo, Victor
AU - Canizales-Quinteros, Samuel
AU - Gallo, Carla
AU - Poletti, Giovanni
AU - Bedoya, Gabriel
AU - Rothhammer, Francisco
AU - Wang, Jiucun
AU - Tan, Jingze
AU - Yuan, Ziyu
AU - Jin, Li
AU - Uitterlinden, André G.
AU - Ghanbari, Mohsen
AU - Ikram, M. Arfan
AU - Nijsten, Tamar
AU - Zhu, Xiangyu
AU - Lei, Zhen
AU - Jia, Peilin
AU - Ruiz-Linares, Andres
AU - Spector, Timothy D.
AU - Wang, Sijia
AU - Kayser, Manfred
AU - Liu, Fan
N1 - Publisher Copyright:
© 2023 Li et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
PY - 2023/7/17
Y1 - 2023/7/17
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85165010515
U2 - 10.1371/journal.pgen.1010786
DO - 10.1371/journal.pgen.1010786
M3 - Artículo
C2 - 37459304
AN - SCOPUS:85165010515
SN - 1553-7390
VL - 19
JO - PLoS Genetics
JF - PLoS Genetics
IS - 7 July
M1 - e1010786
ER -