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A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(−8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inc...
| 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/PMC4874031/ https://www.ncbi.nlm.nih.gov/pubmed/27193062 http://dx.doi.org/10.1038/ncomms11616 |
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| author | Adhikari, Kaustubh Fuentes-Guajardo, Macarena Quinto-Sánchez, Mirsha Mendoza-Revilla, Javier Camilo Chacón-Duque, Juan Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Pérez, Gastón Macín 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 Cheeseman, Michael Rosique, Javier Bedoya, Gabriel Rothhammer, Francisco Headon, Denis González-José, Rolando Balding, David Ruiz-Linares, Andrés |
| author_facet | Adhikari, Kaustubh Fuentes-Guajardo, Macarena Quinto-Sánchez, Mirsha Mendoza-Revilla, Javier Camilo Chacón-Duque, Juan Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Pérez, Gastón Macín 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 Cheeseman, Michael Rosique, Javier Bedoya, Gabriel Rothhammer, Francisco Headon, Denis González-José, Rolando Balding, David Ruiz-Linares, Andrés |
| author_sort | Adhikari, Kaustubh |
| collection | PubMed |
| description | We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(−8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion. |
| format | Online Article Text |
| id | pubmed-4874031 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2016 |
| publisher | Nature Publishing Group |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-48740312016-06-02 A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation Adhikari, Kaustubh Fuentes-Guajardo, Macarena Quinto-Sánchez, Mirsha Mendoza-Revilla, Javier Camilo Chacón-Duque, Juan Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Pérez, Gastón Macín 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 Cheeseman, Michael Rosique, Javier Bedoya, Gabriel Rothhammer, Francisco Headon, Denis González-José, Rolando Balding, David Ruiz-Linares, Andrés Nat Commun Article We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10(−8)) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) and nose wing breadth (7p13 and 20p11). In a subsample of ∼3,000 individuals we obtained quantitative traits related to 9 of the ordinal phenotypes and, also, a measure of nasion position. Quantitative analyses confirmed the ordinal-based associations, identified SNPs in 2q12 associated to chin protrusion, and replicated the reported association of nasion position with SNPs in PAX3. Strongest association in 2q12, 4q31, 6p21 and 7p13 was observed for SNPs in the EDAR, DCHS2, RUNX2 and GLI3 genes, respectively. Associated SNPs in 20p11 extend to PAX1. Consistent with the effect of EDAR on chin protrusion, we documented alterations of mandible length in mice with modified Edar funtion. Nature Publishing Group 2016-05-19 /pmc/articles/PMC4874031/ /pubmed/27193062 http://dx.doi.org/10.1038/ncomms11616 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 Fuentes-Guajardo, Macarena Quinto-Sánchez, Mirsha Mendoza-Revilla, Javier Camilo Chacón-Duque, Juan Acuña-Alonzo, Victor Jaramillo, Claudia Arias, William Lozano, Rodrigo Barquera Pérez, Gastón Macín 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 Cheeseman, Michael Rosique, Javier Bedoya, Gabriel Rothhammer, Francisco Headon, Denis González-José, Rolando Balding, David Ruiz-Linares, Andrés A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| title | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| title_full | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| title_fullStr | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| title_full_unstemmed | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| title_short | A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation |
| title_sort | genome-wide association scan implicates dchs2, runx2, gli3, pax1 and edar in human facial variation |
| topic | Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4874031/ https://www.ncbi.nlm.nih.gov/pubmed/27193062 http://dx.doi.org/10.1038/ncomms11616 |
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