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A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
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...
| Autores principales: | , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Nature Publishing Group
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773514/ https://www.ncbi.nlm.nih.gov/pubmed/26926045 http://dx.doi.org/10.1038/ncomms10815 |
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| author | Adhikari, Kaustubh Fontanil, Tania Cal, Santiago Mendoza-Revilla, Javier Fuentes-Guajardo, Macarena Chacón-Duque, Juan-Camilo Al-Saadi, Farah Johansson, Jeanette A. Quinto-Sanchez, Mirsha Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez-Valdés, Jorge Villamil-Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio C. Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler-Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria-Cátira Canizales-Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel Gonzalez-José, Rolando Headon, Denis López-Otín, Carlos Tobin, Desmond J. Balding, David Ruiz-Linares, Andrés |
| author_facet | Adhikari, Kaustubh Fontanil, Tania Cal, Santiago Mendoza-Revilla, Javier Fuentes-Guajardo, Macarena Chacón-Duque, Juan-Camilo Al-Saadi, Farah Johansson, Jeanette A. Quinto-Sanchez, Mirsha Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez-Valdés, Jorge Villamil-Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio C. Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler-Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria-Cátira Canizales-Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel Gonzalez-José, Rolando Headon, Denis López-Otín, Carlos Tobin, Desmond J. Balding, David Ruiz-Linares, Andrés |
| author_sort | Adhikari, Kaustubh |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-4773514 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-47735142016-03-04 A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Adhikari, Kaustubh Fontanil, Tania Cal, Santiago Mendoza-Revilla, Javier Fuentes-Guajardo, Macarena Chacón-Duque, Juan-Camilo Al-Saadi, Farah Johansson, Jeanette A. Quinto-Sanchez, Mirsha Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez-Valdés, Jorge Villamil-Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio C. Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler-Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria-Cátira Canizales-Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel Gonzalez-José, Rolando Headon, Denis López-Otín, Carlos Tobin, Desmond J. Balding, David Ruiz-Linares, Andrés Nat Commun Article 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. Nature Publishing Group 2016-03-01 /pmc/articles/PMC4773514/ /pubmed/26926045 http://dx.doi.org/10.1038/ncomms10815 Text en Copyright © 2016, Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved. http://creativecommons.org/licenses/by/4.0/ This work is licensed under a Creative Commons Attribution 4.0 International License. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in the credit line; if the material is not included under the Creative Commons license, users will need to obtain permission from the license holder to reproduce the material. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/ |
| spellingShingle | Article Adhikari, Kaustubh Fontanil, Tania Cal, Santiago Mendoza-Revilla, Javier Fuentes-Guajardo, Macarena Chacón-Duque, Juan-Camilo Al-Saadi, Farah Johansson, Jeanette A. Quinto-Sanchez, Mirsha Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Barquera Lozano, Rodrigo Macín Pérez, Gastón Gómez-Valdés, Jorge Villamil-Ramírez, Hugo Hunemeier, Tábita Ramallo, Virginia Silva de Cerqueira, Caio C. Hurtado, Malena Villegas, Valeria Granja, Vanessa Gallo, Carla Poletti, Giovanni Schuler-Faccini, Lavinia Salzano, Francisco M. Bortolini, Maria-Cátira Canizales-Quinteros, Samuel Rothhammer, Francisco Bedoya, Gabriel Gonzalez-José, Rolando Headon, Denis López-Otín, Carlos Tobin, Desmond J. Balding, David Ruiz-Linares, Andrés A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| title | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| title_full | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| title_fullStr | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| title_full_unstemmed | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| title_short | A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| title_sort | genome-wide association scan in admixed latin americans identifies loci influencing facial and scalp hair features |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4773514/ https://www.ncbi.nlm.nih.gov/pubmed/26926045 http://dx.doi.org/10.1038/ncomms10815 |
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