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

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

SUBMITTER: Li Y 

PROVIDER: S-EPMC10351707 | biostudies-literature | 2023 Jul

REPOSITORIES: biostudies-literature