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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features

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  • Kaustubh Adhikari
  • Tania Fontanil
  • Santiago Cal
  • Javier Mendoza-Revilla
  • Macarena Fuentes-Guajardo
  • Juan-Camilo Chacón-Duque
  • Farah Al-Saadi
  • Mirsha Quinto-Sanchez
  • Victor Acuña-Alonzo
  • Claudia Jaramillo
  • William Arias
  • 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
  • Rolando Gonzalez-José
  • Carlos López-Otín
  • Desmond J Tobin
  • David Balding
  • Andrés Ruiz-Linares

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Original languageEnglish
Article number10815
JournalNature Communications
Publication statusPublished - 1 Mar 2016


We report a genome-wide association scan in over 6,000 Latin Americans for features of scalp hair (shape, colour, greying, balding) and facial hair (beard thickness, monobrow, eyebrow thickness). We found 18 signals of association reaching genome-wide significance (P values 5 × 10(-8) to 3 × 10(-119)), including 10 novel associations. These include novel loci for scalp hair shape and balding, and the first reported loci for hair greying, monobrow, eyebrow and beard thickness. A newly identified locus influencing hair shape includes a Q30R substitution in the Protease Serine S1 family member 53 (PRSS53). We demonstrate that this enzyme is highly expressed in the hair follicle, especially the inner root sheath, and that the Q30R substitution affects enzyme processing and secretion. The genome regions associated with hair features are enriched for signals of selection, consistent with proposals regarding the evolution of human hair.

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