A genome-wide association study identifies multiple loci for variation in human ear morphology

作者：Adhikari Kaustubh; Reales Guillermo; Smith Andrew J P; Konka Esra; Palmen Jutta; Quinto Sanchez Mirsha; Acuna Alonzo Victor; Jaramillo Claudia; Arias William; Fuentes Macarena; Pizarro Maria; Barquera Lozano Rodrigo; Macin Perez Gaston; Gomez Valdes Jorge; Villamil Ramirez Hugo; Hunemeier Tabita; Ramallo Virginia; Silva de Cerqueira Caio C; Hurtado Malena; Villegas Valeria; Granja Vanessa; Gallo Carla; Poletti Giovanni; Schuler Faccini Lavinia; Salzano Francisco M

来源：Nature Communications, 2015, 6(1): 7500.

DOI：10.1038/ncomms8500

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 x 10(-8) to 3 x 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1.

• 出版日期2015-6