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

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  • 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
  • Mahmood F Bhutta
  • Steve E Humphries
  • Rolando Gonzalez-José
  • David Balding
  • Andrés Ruiz-Linares

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Original languageEnglish
Article number7500
JournalNature Communications
Publication statusPublished - 24 Jun 2015


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.

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