ArticleNature communications2015
A genome-wide association study identifies multiple loci for variation in human ear morphology.
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Article in Nature communications, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers, 2 of them syntheses that pooled it.
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47citing papers in PubMed, 2 pooled it
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Who cites it
47 citing papers in PubMed, 2 syntheses or guidelines pooled it, 103 citations in OpenAlex.
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- PITX2 expression and Neanderthal introgression in HS3ST3A1 contribute to variation in tooth dimensions in modern humans.Current biology : CB · 2025Article
- DNA-based prediction of external ear morphology in the Chinese population: an exploratory study.PeerJ · 2025Article
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- Neanderthal introgression in SCN9A impacts mechanical pain sensitivity.Communications biology · 2023Article
- Evaluation of loci to predict ear morphology using two SNaPshot assays.Forensic science, medicine, and pathology · 2023Article
- Automatic landmarking identifies new loci associated with face morphology and implicates Neanderthal introgression in human nasal shape.Communications biology · 2023Article
Corrections and comments
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Authors and funding
38 authors at 14 institutions in 9 countries.
Kaustubh AdhikariDepartment of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Guillermo RealesDepartment of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Andrew J P SmithCentre for Cardiovascular Genetics, BHF Laboratories, Institute Cardiovascular Sciences, University College London, Rayne Building, London WC1E 6JF, UK.
Esra KonkaDepartment of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK.
Jutta PalmenCentre for Cardiovascular Genetics, BHF Laboratories, Institute Cardiovascular Sciences, University College London, Rayne Building, London WC1E 6JF, UK.
Mirsha Quinto-SanchezCentro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
Victor Acuña-Alonzo1] Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK [2] National Institute of Anthropology and History, Mexico City 4510, Mexico.
Claudia JaramilloGENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
William AriasGENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
Macarena FuentesInstituto de Alta Investigación, Universidad de Tarapacá, Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile.
María PizarroInstituto de Alta Investigación, Universidad de Tarapacá, Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile.
Rodrigo Barquera Lozano1] National Institute of Anthropology and History, Mexico City 4510, Mexico [2] Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.
Gastón Macín Pérez1] National Institute of Anthropology and History, Mexico City 4510, Mexico [2] Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.
Jorge Gómez-ValdésFacultad de Medicina, UNAM, Mexico City 4510, Mexico.
Hugo Villamil-RamírezUnidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.
Tábita HunemeierDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Virginia Ramallo1] Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina [2] Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Caio C Silva de CerqueiraDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Malena HurtadoLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima 31, Peru.
Valeria VillegasLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima 31, Peru.
Vanessa GranjaLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima 31, Peru.
Carla GalloLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima 31, Peru.
Giovanni PolettiLaboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima 31, Peru.
Lavinia Schuler-FacciniDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Francisco M SalzanoDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Maria-Cátira BortoliniDepartamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
Samuel Canizales-QuinterosUnidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.
Francisco RothhammerInstituto de Alta Investigación, Universidad de Tarapacá, Programa de Genética Humana ICBM Facultad de Medicina Universidad de Chile and Centro de Investigaciones del Hombre en el Desierto, Arica 1000000, Chile.
Gabriel BedoyaGENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
Rosario CalderónDepartamento de Zoología y Antropología Física, Universidad Complutense de Madrid, Madrid 28040, Spain.
Javier RosiqueDepartamento de Antropología, Facultad de Ciencias Sociales y Humanas, Universidad de Antioquia, Medellín 5001000, Colombia.
Michael CheesemanThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
Mahmood F Bhutta1] UCL Ear Institute, University College London, London WC1X 8EE, UK [2] Royal National Throat Nose and Ear Hospital, London WC1X 8EE, UK.
Steve E Humphries1] Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK [2] Centre for Cardiovascular Genetics, BHF Laboratories, Institute Cardiovascular Sciences, University College London, Rayne Building, London WC1E 6JF, UK.
Rolando Gonzalez-JoséCentro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
Denis HeadonThe Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
David Balding1] Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK [2] Schools of BioSciences and Mathematics &Statistics, University of Melbourne, Melbourne, Victoria 3010, Australia.
Andrés Ruiz-LinaresDepartment of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK.
University College London · GBUniversidade Federal do Rio Grande do Sul · BRUniversidad Peruana Cayetano Heredia · PEUniversidad de Antioquia · COCentro Científico Tecnológico Patagónico · ARNational Institute of Anthropology and History · MXNational Institute of Genomic Medicine · MXUniversity of Chile · CLRoslin Institute · GBUniversidad Complutense de Madrid · ESUniversidad Nacional Autónoma de México · MXUniversity of Edinburgh · GBUniversity of Melbourne · AUUniversity of Tarapacá · CL
Funding
Biotechnology and Biological Sciences Research Council BB/I021213/1British Heart Foundation FS/13/6/29977British Heart Foundation RG/08/008/25291Medical Research Council G0901388Medical Research Council MC_U142670371
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 × 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.
Indexed as
AdolescentAdultAmerican Indian or Alaska NativeAnimalsCell Line, TumorEar AuricleEdar ReceptorFemaleGenome-Wide Association StudyGenotypeHomeodomain ProteinsHumansLatin AmericaMaleMiceMorphogenesisALX1 protein, humanEDAR protein, humanEdar protein, mouseEdar ReceptorHomeodomain ProteinsT-Box Domain ProteinsTBX15 protein, human
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