A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features
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...
- Autores:
-
Jaramillo Alzate, Claudia Milena
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
Arias Pérez, William Hernán
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 Berrío, Gabriel de Jesús
González José, Rolando
Headon, Denis
López Otín, Carlos
Tobin, Desmond J.
Balding, David
Ruiz Linares, Andrés
- Tipo de recurso:
- Article of investigation
- Fecha de publicación:
- 2016
- Institución:
- Universidad de Antioquia
- Repositorio:
- Repositorio UdeA
- Idioma:
- spa
- OAI Identifier:
- oai:bibliotecadigital.udea.edu.co:10495/34948
- Acceso en línea:
- https://hdl.handle.net/10495/34948
- Palabra clave:
- Cara - fisiología
Face - physiology
Regulación de la Expresión Génica - fisiología
Gene Expression Regulation - physiology
Variación Genética
Genetic Variation
Estudio de Asociación del Genoma Completo
Genome-Wide Association Study
Cabello - crecimiento y desarrollo
Hair - growth and development
Grupos Raciales
Racial Groups
Cuero Cabelludo - fisiología
Scalp - physiology
- Rights
- openAccess
- License
- http://creativecommons.org/licenses/by/2.5/co/
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| dc.title.spa.fl_str_mv |
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 |
| spellingShingle |
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Cara - fisiología Face - physiology Regulación de la Expresión Génica - fisiología Gene Expression Regulation - physiology Variación Genética Genetic Variation Estudio de Asociación del Genoma Completo Genome-Wide Association Study Cabello - crecimiento y desarrollo Hair - growth and development Grupos Raciales Racial Groups Cuero Cabelludo - fisiología Scalp - physiology |
| title_short |
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_sort |
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features |
| dc.creator.fl_str_mv |
Jaramillo Alzate, Claudia Milena 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 Arias Pérez, William Hernán 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 Berrío, Gabriel de Jesús González José, Rolando Headon, Denis López Otín, Carlos Tobin, Desmond J. Balding, David Ruiz Linares, Andrés |
| dc.contributor.author.none.fl_str_mv |
Jaramillo Alzate, Claudia Milena 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 Arias Pérez, William Hernán 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 Berrío, Gabriel de Jesús González José, Rolando Headon, Denis López Otín, Carlos Tobin, Desmond J. Balding, David Ruiz Linares, Andrés |
| dc.subject.decs.none.fl_str_mv |
Cara - fisiología Face - physiology Regulación de la Expresión Génica - fisiología Gene Expression Regulation - physiology Variación Genética Genetic Variation Estudio de Asociación del Genoma Completo Genome-Wide Association Study Cabello - crecimiento y desarrollo Hair - growth and development Grupos Raciales Racial Groups Cuero Cabelludo - fisiología Scalp - physiology |
| topic |
Cara - fisiología Face - physiology Regulación de la Expresión Génica - fisiología Gene Expression Regulation - physiology Variación Genética Genetic Variation Estudio de Asociación del Genoma Completo Genome-Wide Association Study Cabello - crecimiento y desarrollo Hair - growth and development Grupos Raciales Racial Groups Cuero Cabelludo - fisiología Scalp - physiology |
| description |
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. |
| publishDate |
2016 |
| dc.date.issued.none.fl_str_mv |
2016 |
| dc.date.accessioned.none.fl_str_mv |
2023-05-10T16:47:35Z |
| dc.date.available.none.fl_str_mv |
2023-05-10T16:47:35Z |
| dc.type.spa.fl_str_mv |
info:eu-repo/semantics/article |
| dc.type.coarversion.fl_str_mv |
http://purl.org/coar/version/c_970fb48d4fbd8a85 |
| dc.type.hasversion.spa.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
| dc.type.coar.spa.fl_str_mv |
http://purl.org/coar/resource_type/c_2df8fbb1 |
| dc.type.redcol.spa.fl_str_mv |
https://purl.org/redcol/resource_type/ART |
| dc.type.local.spa.fl_str_mv |
Artículo de investigación |
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http://purl.org/coar/resource_type/c_2df8fbb1 |
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publishedVersion |
| dc.identifier.citation.spa.fl_str_mv |
Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815. |
| dc.identifier.uri.none.fl_str_mv |
https://hdl.handle.net/10495/34948 |
| dc.identifier.doi.none.fl_str_mv |
10.1038/ncomms10815 |
| dc.identifier.eissn.none.fl_str_mv |
2041-1723 |
| identifier_str_mv |
Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815. 10.1038/ncomms10815 2041-1723 |
| url |
https://hdl.handle.net/10495/34948 |
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spa |
| language |
spa |
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Nat. Commun. |
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info:eu-repo/semantics/openAccess |
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http://creativecommons.org/licenses/by/2.5/co/ |
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https://creativecommons.org/licenses/by/4.0/ |
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openAccess |
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http://creativecommons.org/licenses/by/2.5/co/ http://purl.org/coar/access_right/c_abf2 https://creativecommons.org/licenses/by/4.0/ |
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Nature Research |
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Genética Molecular (GENMOL) |
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Londres, Inglaterra |
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Universidad de Antioquia |
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Jaramillo Alzate, Claudia MilenaAdhikari, KaustubhFontanil, TaniaCal, SantiagoMendoza Revilla, JavierFuentes Guajardo, MacarenaChacón Duque, Juan CamiloAl Saadi, FarahJohansson, Jeanette AQuinto Sanchez, MirshaAcuña Alonzo, VictorArias Pérez, William HernánBarquera Lozano, RodrigoMacín Pérez, GastónGómez Valdés, JorgeVillamil Ramírez, HugoHunemeier, TábitaRamallo, VirginiaSilva de Cerqueira, Caio C.Hurtado, MalenaVillegas, ValeriaGranja, VanessaGallo, CarlaPoletti, GiovanniSchuler Faccini, LaviniaSalzano, Francisco M.Bortolini, Maria CátiraCanizales Quinteros, SamuelRothhammer, FranciscoBedoya Berrío, Gabriel de JesúsGonzález José, RolandoHeadon, DenisLópez Otín, CarlosTobin, Desmond J.Balding, DavidRuiz Linares, Andrés2023-05-10T16:47:35Z2023-05-10T16:47:35Z2016Adhikari K, Fontanil T, Cal S, Mendoza-Revilla J, Fuentes-Guajardo M, Chacón-Duque JC, Al-Saadi F, Johansson JA, Quinto-Sanchez M, Acuña-Alonzo V, Jaramillo C, Arias W, Barquera Lozano R, Macín Pérez G, Gómez-Valdés J, Villamil-Ramírez H, Hunemeier T, Ramallo V, Silva de Cerqueira CC, Hurtado M, Villegas V, Granja V, Gallo C, Poletti G, Schuler-Faccini L, Salzano FM, Bortolini MC, Canizales-Quinteros S, Rothhammer F, Bedoya G, Gonzalez-José R, Headon D, López-Otín C, Tobin DJ, Balding D, Ruiz-Linares A. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun. 2016 Mar 1;7:10815. doi: 10.1038/ncomms10815.https://hdl.handle.net/10495/3494810.1038/ncomms108152041-1723ABSTRACT: 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.COL000672312application/pdfspaNature ResearchGenética Molecular (GENMOL)Londres, Inglaterrainfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlehttp://purl.org/coar/resource_type/c_2df8fbb1https://purl.org/redcol/resource_type/ARTArtículo de investigaciónhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by/4.0/A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair featuresCara - fisiologíaFace - physiologyRegulación de la Expresión Génica - fisiologíaGene Expression Regulation - physiologyVariación GenéticaGenetic VariationEstudio de Asociación del Genoma CompletoGenome-Wide Association StudyCabello - crecimiento y desarrolloHair - growth and developmentGrupos RacialesRacial GroupsCuero Cabelludo - fisiologíaScalp - physiologyNat. Commun.Nature Communications1127ORIGINALJaramilloClaudia_2016_AGenomeWide.pdfJaramilloClaudia_2016_AGenomeWide.pdfArtículo de investigaciónapplication/pdf2347123https://bibliotecadigital.udea.edu.co/bitstream/10495/34948/1/JaramilloClaudia_2016_AGenomeWide.pdf85212fbdfddb0f446ab242b5347b8a39MD51CC-LICENSElicense_rdflicense_rdfapplication/rdf+xml; charset=utf-8927https://bibliotecadigital.udea.edu.co/bitstream/10495/34948/2/license_rdf1646d1f6b96dbbbc38035efc9239ac9cMD52LICENSElicense.txtlicense.txttext/plain; charset=utf-81748https://bibliotecadigital.udea.edu.co/bitstream/10495/34948/3/license.txt8a4605be74aa9ea9d79846c1fba20a33MD5310495/34948oai:bibliotecadigital.udea.edu.co:10495/349482023-09-26 13:32:22.659Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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 |