Journal article
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
K Adhikari, T Fontanil, S Cal, J Mendoza-Revilla, M Fuentes-Guajardo, JC Chacón-Duque, F Al-Saadi, JA Johansson, M Quinto-Sanchez, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, GM Pérez, J Gómez-Valdés, H Villamil-Ramírez, T Hunemeier, V Ramallo, CCS De Cerqueira, M Hurtado Show all
Nature Communications | NATURE PORTFOLIO | Published : 2016
DOI: 10.1038/ncomms10815
Abstract
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 inne..
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Awarded by Universidad de Antioquia
Funding Acknowledgements
We are grateful to the volunteers for their enthusiastic support for this research. We thank Alvaro Alvarado, Monica Ballesteros Romero, Ricardo Cebrecos, Miguel Angel Contreras Sieck, Francisco de Avila Becerril, Joyce De la Piedra, Maria Teresa Del Solar, Paola Everardo Martinez, William Flores, Martha Granados Riveros, Ilich Jafet Moreno, Jodie Lampert, Paola Leon-Mimila, Francisco Quispealaya, Diana Rogel Diaz, Ruth Rojas, Norman Russell, Vanessa Sarabia, Rosilene Paim, Ricardo Gunski, Sergeant Joao Felisberto Menezes Cavalheiro and Major Eugenio Correa de Souza Junior for assistance with volunteer recruitment, sample processing and data entry. We also thank Richard Baker for technical assistance with the human skin immunofluorescence, Pardis Sabeti and Matteo Fumagalli for advice on the analysis of CMS scores, Elfride De Baere for information on clinical features of BPES patients, Doug Speed for advice on the prediction analysis, Barbara Kremeyer for comments on the manuscript and Emiliano Bellini for the face illustrations in Fig. 1. The following institutions kindly provided facilities for the assessment of volunteers: 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); Universidade Federal do Rio Grande do Sul (Brazil); 13 degrees Companhia de Comunicacoes Mecanizada do Exercito Brasileiro (Brazil). This work was funded by grants from: the Leverhulme Trust (F/07 134/DF to ARL), BBSRC (BB/I021213/1 to ARL and Institute Strategic Programme grant to The Roslin Institute); Universidad de Antioquia, Colombia (CODI sostenibilidad de grupos 2013- 2014 and MASO 2013-2014); Ministerio de Economia y Competitividad and Instituto de Salud Carlos III (RTICC), Spain. C.L.-O. is an Investigator of the Botin Foundation supported by the Banco Santander through its Santander Universities Global Division.