Title
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
Date Issued
01 March 2016
Access level
open access
Resource Type
journal article
Author(s)
Adhikari K.
Fontanil T.
Cal S.
Fuentes-Guajardo M.
Chacón-Duque J.C.
Al-Saadi F.
Johansson J.A.
Quinto-Sanchez M.
Acuña-Alonzo V.
Jaramillo C.
Arias W.
Lozano R.B.
Pérez G.M.
Gómez-Valdés J.
Villamil-Ramírez H.
Hunemeier T.
Ramallo V.
De Cerqueira C.C.S.
Hurtado M.
Granja V.
Schuler-Faccini L.
Salzano F.M.
Bortolini M.C.
Canizales-Quinteros S.
Rothhammer F.
Bedoya G.
Gonzalez-José R.
Headon D.
López-Otín C.
Tobin D.J.
Balding D.
Ruiz-Linares A.
Publisher(s)
Nature Publishing Group
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 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.
Volume
7
Language
English
OCDE Knowledge area
Genética humana
Scopus EID
2-s2.0-84959515522
PubMed ID
Source
Nature Communications
ISSN of the container
20411723
Sponsor(s)
We are grateful to the volunteers for their enthusiastic support for this research. We thank Alvaro Alvarado, Mónica Ballesteros Romero, Ricardo Cebrecos, Miguel Ángel Contreras Sieck, Francisco de Ávila Becerril, Joyce De la Piedra, María Teresa Del Solar, Paola Everardo Martínez, William Flores, Martha Granados Riveros, Ilich Jafet Moreno, Jodie Lampert, Paola León-Mimila, Francisco Quispealaya, Diana Rogel Diaz, Ruth Rojas, Norman Russell, Vanessa Sarabia, Rosilene Paim, Ricardo Gunski, Sergeant João Felisberto Menezes Cavalheiro and Major Eugênio 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 Antropología e Historia and Universidad Nacional Autónoma de México (México); Pontificia Universidad Católica del Perú, Universidad de Lima and Universidad Nacional Mayor de San Marcos (Perú); Universidade Federal do Rio Grande do Sul (Brazil); 13° Companhia de Comunicac¸ões Mecanizada do Exército 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 Economía 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.
Sources of information:
Directorio de Producción Científica
Scopus