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  • About
  • The Global ETD Search service is a free service for researchers to find electronic theses and dissertations. This service is provided by the Networked Digital Library of Theses and Dissertations.
    Our metadata is collected from universities around the world. If you manage a university/consortium/country archive and want to be added, details can be found on the NDLTD website.
1

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

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. 25 January 2016 (has links)
Yes / 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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