TY - JOUR
T1 - A genome-wide association study identifies multiple loci for variation in human ear morphology
AU - Adhikari, Kaustubh
AU - Reales, Guillermo
AU - Smith, Andrew J.P.
AU - Konka, Esra
AU - Palmen, Jutta
AU - Quinto-Sanchez, Mirsha
AU - Acuña-Alonzo, Victor
AU - Jaramillo, Claudia
AU - Arias, William
AU - Fuentes, MacArena
AU - Pizarro, María
AU - Barquera Lozano, Rodrigo
AU - MacÍn Pérez, Gastón
AU - Gómez-Valdés, Jorge
AU - Villamil-Ramírez, Hugo
AU - Hunemeier, Tábita
AU - Ramallo, Virginia
AU - Silva De Cerqueira, Caio C.
AU - Hurtado, Malena
AU - Villegas, Valeria
AU - Granja, Vanessa
AU - Gallo, Carla
AU - Poletti, Giovanni
AU - Schuler-Faccini, Lavinia
AU - Salzano, Francisco M.
AU - Bortolini, Maria Cátira
AU - Canizales-Quinteros, Samuel
AU - Rothhammer, Francisco
AU - Bedoya, Gabriel
AU - Calderón, Rosario
AU - Rosique, Javier
AU - Cheeseman, Michael
AU - Bhutta, Mahmood F.
AU - Humphries, Steve E.
AU - Gonzalez-José, Rolando
AU - Headon, Denis
AU - Balding, David
AU - Ruiz-Linares, Andrés
N1 - Publisher Copyright:
© 2015 Macmillan Publishers Limited. All rights reserved.
PY - 2015/6/24
Y1 - 2015/6/24
N2 - 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 × 10-8 to 3 × 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.
AB - 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 × 10-8 to 3 × 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.
UR - https://www.scopus.com/pages/publications/84933039617
U2 - 10.1038/ncomms8500
DO - 10.1038/ncomms8500
M3 - Article
C2 - 26105758
AN - SCOPUS:84933039617
SN - 2041-1723
VL - 6
JO - Nature Communications
JF - Nature Communications
M1 - 7500
ER -