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

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dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Reales, Guillermo
dc.contributor.author Smith, Andrew J. P.
dc.contributor.author Konka, Esra
dc.contributor.author Palmen, Jutta
dc.contributor.author Quinto-Sanchez, Mirsha
dc.contributor.author Acuna-Alonzo, Victor
dc.contributor.author Jaramillo, Claudia
dc.contributor.author Arias, William
dc.contributor.author Fuentes, Macarena
dc.contributor.author Pizarro, Maria
dc.contributor.author Barquera Lozano, Rodrigo
dc.contributor.author Macin Perez, Gaston
dc.contributor.author Gomez-Valdes, Jorge
dc.contributor.author Villamil-Ramirez, Hugo
dc.contributor.author Hunemeier, Tabita
dc.contributor.author Ramallo, Virginia
dc.contributor.author Silva de Cerqueira, Caio C.
dc.contributor.author Hurtado, Malena
dc.contributor.author Villegas, Valeria
dc.contributor.author Granja, Vanessa
dc.contributor.author Gallo, Carla
dc.contributor.author Poletti, Giovanni
dc.contributor.author Schuler-Faccini, Lavinia
dc.contributor.author Salzano, Francisco M.
dc.contributor.author Bortolini, Maria-Catira
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Bedoya, Gabriel
dc.contributor.author Calderon, Rosario
dc.contributor.author Rosique, Javier
dc.contributor.author Cheeseman, Michael
dc.contributor.author Bhutta, Mahmood F.
dc.contributor.author Humphries, Steve E.
dc.contributor.author Gonzalez-Jose, Rolando
dc.contributor.author Headon, Denis
dc.contributor.author Balding, David
dc.contributor.author Ruiz-Linares, Andres
dc.date.accessioned 2019-02-06T14:53:07Z
dc.date.available 2019-02-06T14:53:07Z
dc.date.issued 2015
dc.identifier.uri https://hdl.handle.net/20.500.12866/5370
dc.description.abstract 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. en_US
dc.language.iso eng
dc.publisher Springer
dc.relation.ispartof urn:issn:2041-1723
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Adolescent en_US
dc.subject Adult en_US
dc.subject Female en_US
dc.subject Humans en_US
dc.subject Male en_US
dc.subject Young Adult en_US
dc.subject Latin America en_US
dc.subject Animals en_US
dc.subject Phenotype en_US
dc.subject Genotype en_US
dc.subject Genome-Wide Association Study en_US
dc.subject Cell Line, Tumor en_US
dc.subject American Native Continental Ancestry Group/genetics en_US
dc.subject European Continental Ancestry Group/genetics en_US
dc.subject Mice en_US
dc.subject Edar Receptor/genetics en_US
dc.subject Polymorphism, Single Nucleotide en_US
dc.subject Ear Auricle/anatomy & histology/embryology en_US
dc.subject Homeodomain Proteins/metabolism en_US
dc.subject Morphogenesis/genetics en_US
dc.subject T-Box Domain Proteins/genetics/metabolism en_US
dc.title A genome-wide association study identifies multiple loci for variation in human ear morphology en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/ncomms8500
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#3.02.00 es_PE
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.03
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.04.00
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.03.00

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