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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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    Publication date
    2016-03-01
    Author
    Adhikari, K.
    Fontanil, T.
    Cal, S.
    Mendoza-Revilla, J.
    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.
    Macín Pérez, G.
    Gómez-Valdés, J.
    Villamil-Ramírez, H.
    Hunemeier, T.
    Ramallo, V.
    Silva de Cerqueira, C.C.
    Hurtado, M.
    Villegas, V.
    Granja, V.
    Gallo, C.
    Poletti, G.
    Schuler-Faccini, L.
    Salzano, F.M.
    Bortolini, MC.
    Canizales-Quinteros, S.
    Rothhammer, F.
    Bedoya, G.
    Gonzalez-José, R.
    Headon, D.
    López-Otín, C.
    Tobin, Desmond J.
    Balding, D.
    Ruiz-Linares, A.
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    Keyword
    Genome-wide association scan; Hair; Latin Americans; Loci; Human; Facial hair; Scalp hair
    Rights
    © 2016 The Authors. Published by Nature. This work is licensed under a Creative Commons Attribution 4.0 International License. http://creativecommons.org/licenses/by/4.0/
    Peer-Reviewed
    yes
    
    Metadata
    Show full item record
    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.
    URI
    http://hdl.handle.net/10454/8528
    Version
    published version paper
    Citation
    Adhikari K, Fontanil T, Cal S, et al. (2016) A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nature Communications, 7, Article No. 10815.
    Link to publisher’s version
    http://dx.doi.org/10.1038/ncomms10815
    Type
    Article
    Collections
    Life Sciences Publications

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