Title |
A genome-wide association study identifies multiple loci for variation in human ear morphology
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Published in |
Nature Communications, June 2015
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DOI | 10.1038/ncomms8500 |
Pubmed ID | |
Authors |
Kaustubh Adhikari, Guillermo Reales, Andrew J. P. Smith, Esra Konka, Jutta Palmen, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Macarena Fuentes, María Pizarro, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria- Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rosario Calderón, Javier Rosique, Michael Cheeseman, Mahmood F. Bhutta, Steve E. Humphries, Rolando Gonzalez-José, Denis Headon, David Balding, Andrés Ruiz-Linares |
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. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 16 | 22% |
United Kingdom | 7 | 10% |
Spain | 5 | 7% |
Canada | 3 | 4% |
Mexico | 2 | 3% |
Australia | 2 | 3% |
Denmark | 1 | 1% |
New Zealand | 1 | 1% |
Chile | 1 | 1% |
Other | 5 | 7% |
Unknown | 30 | 41% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Members of the public | 42 | 58% |
Scientists | 29 | 40% |
Practitioners (doctors, other healthcare professionals) | 2 | 3% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Germany | 1 | <1% |
Australia | 1 | <1% |
Brazil | 1 | <1% |
United Kingdom | 1 | <1% |
Mexico | 1 | <1% |
Argentina | 1 | <1% |
Unknown | 141 | 96% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 24 | 16% |
Student > Ph. D. Student | 22 | 15% |
Student > Master | 19 | 13% |
Student > Bachelor | 15 | 10% |
Professor | 8 | 5% |
Other | 32 | 22% |
Unknown | 27 | 18% |
Readers by discipline | Count | As % |
---|---|---|
Agricultural and Biological Sciences | 41 | 28% |
Biochemistry, Genetics and Molecular Biology | 28 | 19% |
Medicine and Dentistry | 19 | 13% |
Arts and Humanities | 6 | 4% |
Nursing and Health Professions | 4 | 3% |
Other | 19 | 13% |
Unknown | 30 | 20% |