Journal article
A genome-wide association study identifies multiple loci for variation in human ear morphology
K Adhikari, G Reales, AJP Smith, E Konka, J Palmen, M Quinto-Sanchez, V Acuña-Alonzo, C Jaramillo, W Arias, M Fuentes, M Pizarro, R Barquera Lozano, G MacÍn Pérez, J Gómez-Valdés, H Villamil-Ramírez, T Hunemeier, V Ramallo, CC Silva De Cerqueira, M Hurtado, V Villegas Show all
Nature Communications | Published : 2015
DOI: 10.1038/ncomms8500
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 1..
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Awarded by UCLH Biomedical Research Centre
Funding Acknowledgements
We thank the volunteers for their enthusiastic support. We also thank Alvaro Alvarado, Monica Ballesteros Romero, Mari-Wyn Burley, Ricardo Cebrecos, Debajyoti Choudhury, Miguel Angel Contreras Sieck, Francisco de Avila Becerril, Joyce De la Piedra, Maria Teresa Del Solar, Paola Everardo Martinez, William Flores, Martha Granados Riveros, Wendy Hart, Ilich Jafet Moreno, Jodie Lampert, Mowmita Basak Mow, Paola Leon-Mimila, Javier Mendoza, Francisco Quispealaya, Diana Rogel Diaz, Ruth Rojas, Norman Russell, Vanessa Sarabia and Fabienne Tessiot for assistance with volunteer recruitment, sample processing and data entry. We are very grateful to the institutions that kindly provided facilities for the assessment of volunteers, including: Escuela Nacional de Antropologia e Historia and Universidad Nacional Autonoma de Mexico (Mexico); Pontificia Universidad Catolica del Peru, Universidad de Lima and Universidad Nacional Mayor de San Marcos (Peru). This work was funded by grants from the Leverhulme Trust (F/07 134/DF to A.R.-L.), BBSRC (BB/I021213/1 to A.R.-L. and Institute Strategic Programme grant to The Roslin Institute), Universidad de Antioquia (GENMOL sostenibilidad 2015-2016 and MASO 2013-2014). S.E.H. holds a British Heart Foundation Chair and acknowledges funding from grant RG008/08 and is also supported by the National Institute for Health Research University College London Hospitals Biomedical Research Centre. A.J.P.S. is funded by a BHF Fellowship (FS/13/6/29977).