Journal article

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

Kaustubh Adhikari, Guillermo Reales, Andrew JP Smith, Esra Konka, Jutta Palmen, Mirsha Quinto-Sanchez, Victor Acuna-Alonzo, Claudia Jaramillo, William Arias, Macarena Fuentes, Maria Pizarro, Rodrigo Barquera Lozano, Gaston Macin Perez, Jorge Gomez-Valdes, Hugo Villamil-Ramirez, Tabita Hunemeier, Virginia Ramallo, Caio C Silva de Cerqueira, Malena Hurtado, Valeria Villegas Show all



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 Prote..

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University of Melbourne Researchers


Awarded by Leverhulme Trust

Awarded by BBSRC

Awarded by British Heart Foundation Chair

Awarded by BHF Fellowship

Awarded by Biotechnology and Biological Sciences Research Council

Awarded by British Heart Foundation

Awarded by Medical Research Council

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).