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Nat Commun. 2015 Jun 24;6:7500. doi: 10.1038/ncomms8500.

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

Author information

1
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.
3
Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina.
4
1] 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.
5
GENMOL (Genética Molecular), Universidad de Antioquia, Medellín 5001000, Colombia.
6
Instituto 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.
7
1] 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.
8
Facultad de Medicina, UNAM, Mexico City 4510, Mexico.
9
Unidad de Genómica de Poblaciones Aplicada a la Salud, Facultad de Química, UNAM-Instituto Nacional de Medicina Genómica, Mexico City 4510, Mexico.
10
Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
11
1] Centro Nacional Patagónico, CONICET, Puerto Madryn U9129ACD, Argentina [2] Departamento de Genética, Universidade Federal do Rio Grande do Sul, Porto Alegre 91501-970, Brazil.
12
Laboratorios de Investigación y Desarrollo, Facultad de Ciencias y Filosofía, Universidad Peruana Cayetano Heredia, Lima 31, Peru.
13
Departamento de Zoología y Antropología Física, Universidad Complutense de Madrid, Madrid 28040, Spain.
14
Departamento de Antropología, Facultad de Ciencias Sociales y Humanas, Universidad de Antioquia, Medellín 5001000, Colombia.
15
The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Midlothian EH25 9RG, UK.
16
1] UCL Ear Institute, University College London, London WC1X 8EE, UK [2] Royal National Throat Nose and Ear Hospital, London WC1X 8EE, UK.
17
1] 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.
18
1] 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.

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.

PMID:
26105758
PMCID:
PMC4491814
DOI:
10.1038/ncomms8500
[Indexed for MEDLINE]
Free PMC Article

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