A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation

ABSTRACT: We report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 10 8) at single-nucleotide polymorphisms (SNPs) in four genomic regions for three nose-related traits: columella...

Full description

Autores:
Adhikari, Kaustubh
Fuentes Guajardo, Macarena
Quinto Sánchez, Mirsha Emmanuel
Mendoza Revilla, Javier
Chacón Duque, Juan Camilo
Acuña Alonzo, Víctor
Jaramillo, Claudia
Arias Pérez, William Hernán
Barquera Lozano, Rodrigo
Macín Pérez, Gastón
Gómez Valdés, Jorge
Villamil Ramírez, Hugo
Ramallo, Virginia
Silva de Cerqueira, Caio Cesar
Hurtado, Malena
Granja, Vanessa
Gallo, Carla
Poletti, Giovanni
Schuler Faccini, Lavinia
Salzano, Francisco M.
Cátira Bortolini, Maria
Canizales Quinteros, Samuel
Cheeseman, Michael
Rosique Gracia, Javier
Bedoya Berrío, Gabriel de Jesús
Rothhammer, Francisco
Headon, Denis
González José, Rolando
Balding, David
Ruiz Linares, Andrés
Tipo de recurso:
Article of investigation
Fecha de publicación:
2016
Institución:
Universidad de Antioquia
Repositorio:
Repositorio UdeA
Idioma:
eng
OAI Identifier:
oai:bibliotecadigital.udea.edu.co:10495/11631
Acceso en línea:
http://hdl.handle.net/10495/11631
Palabra clave:
Genoma humano
Antropología física
Morfología facial
Latinoamericanos
Rights
openAccess
License
Atribución-NoComercial-SinDerivadas 2.5 Colombia
id UDEA2_e85d16d2e719ce2cc0b922de8d4b351c
oai_identifier_str oai:bibliotecadigital.udea.edu.co:10495/11631
network_acronym_str UDEA2
network_name_str Repositorio UdeA
repository_id_str
dc.title.spa.fl_str_mv 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
spellingShingle A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
Genoma humano
Antropología física
Morfología facial
Latinoamericanos
title_short 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_sort A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
dc.creator.fl_str_mv Adhikari, Kaustubh
Fuentes Guajardo, Macarena
Quinto Sánchez, Mirsha Emmanuel
Mendoza Revilla, Javier
Chacón Duque, Juan Camilo
Acuña Alonzo, Víctor
Jaramillo, Claudia
Arias Pérez, William Hernán
Barquera Lozano, Rodrigo
Macín Pérez, Gastón
Gómez Valdés, Jorge
Villamil Ramírez, Hugo
Ramallo, Virginia
Silva de Cerqueira, Caio Cesar
Hurtado, Malena
Granja, Vanessa
Gallo, Carla
Poletti, Giovanni
Schuler Faccini, Lavinia
Salzano, Francisco M.
Cátira Bortolini, Maria
Canizales Quinteros, Samuel
Cheeseman, Michael
Rosique Gracia, Javier
Bedoya Berrío, Gabriel de Jesús
Rothhammer, Francisco
Headon, Denis
González José, Rolando
Balding, David
Ruiz Linares, Andrés
dc.contributor.author.none.fl_str_mv Adhikari, Kaustubh
Fuentes Guajardo, Macarena
Quinto Sánchez, Mirsha Emmanuel
Mendoza Revilla, Javier
Chacón Duque, Juan Camilo
Acuña Alonzo, Víctor
Jaramillo, Claudia
Arias Pérez, William Hernán
Barquera Lozano, Rodrigo
Macín Pérez, Gastón
Gómez Valdés, Jorge
Villamil Ramírez, Hugo
Ramallo, Virginia
Silva de Cerqueira, Caio Cesar
Hurtado, Malena
Granja, Vanessa
Gallo, Carla
Poletti, Giovanni
Schuler Faccini, Lavinia
Salzano, Francisco M.
Cátira Bortolini, Maria
Canizales Quinteros, Samuel
Cheeseman, Michael
Rosique Gracia, Javier
Bedoya Berrío, Gabriel de Jesús
Rothhammer, Francisco
Headon, Denis
González José, Rolando
Balding, David
Ruiz Linares, Andrés
dc.subject.none.fl_str_mv Genoma humano
Antropología física
Morfología facial
Latinoamericanos
topic Genoma humano
Antropología física
Morfología facial
Latinoamericanos
description ABSTRACT: We report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 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 B3,000 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.
publishDate 2016
dc.date.issued.none.fl_str_mv 2016
dc.date.accessioned.none.fl_str_mv 2019-08-09T19:40:23Z
dc.date.available.none.fl_str_mv 2019-08-09T19:40:23Z
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
format http://purl.org/coar/resource_type/c_2df8fbb1
status_str publishedVersion
dc.identifier.citation.spa.fl_str_mv Adhikari, K., Fuentes Guajardo, M., Quinto Sanchez, M. E., Mendoza Revilla, J., Chacón Duque, J. C., & Acuña Alonzo, V. (2016). A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nature Communications, (7), 1-11. DOI: 10.1038/ncomms11616
dc.identifier.uri.none.fl_str_mv http://hdl.handle.net/10495/11631
dc.identifier.doi.none.fl_str_mv DOI 10.1038/ncomms11616
dc.identifier.eissn.none.fl_str_mv 2041-1723
identifier_str_mv Adhikari, K., Fuentes Guajardo, M., Quinto Sanchez, M. E., Mendoza Revilla, J., Chacón Duque, J. C., & Acuña Alonzo, V. (2016). A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nature Communications, (7), 1-11. DOI: 10.1038/ncomms11616
DOI 10.1038/ncomms11616
2041-1723
url http://hdl.handle.net/10495/11631
dc.language.iso.fl_str_mv eng
language eng
dc.rights.*.fl_str_mv Atribución-NoComercial-SinDerivadas 2.5 Colombia
dc.rights.spa.fl_str_mv info:eu-repo/semantics/openAccess
dc.rights.uri.*.fl_str_mv http://creativecommons.org/licenses/by-nc-nd/2.5/co/
dc.rights.accessrights.spa.fl_str_mv http://purl.org/coar/access_right/c_abf2
dc.rights.creativecommons.spa.fl_str_mv https://creativecommons.org/licenses/by-nc-nd/4.0/
rights_invalid_str_mv Atribución-NoComercial-SinDerivadas 2.5 Colombia
http://creativecommons.org/licenses/by-nc-nd/2.5/co/
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by-nc-nd/4.0/
eu_rights_str_mv openAccess
dc.format.mimetype.spa.fl_str_mv application/pdf
dc.publisher.group.spa.fl_str_mv Grupo de Investigación Medio Ambiente y Sociedad (MASO)
dc.publisher.place.spa.fl_str_mv Reino Unido
institution Universidad de Antioquia
bitstream.url.fl_str_mv http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/5/license.txt
http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/2/license_url
http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/3/license_text
http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/4/license_rdf
http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/1/KaustubhAdhikeri_2016_GenomeWideAssociation.pdf
bitstream.checksum.fl_str_mv 8a4605be74aa9ea9d79846c1fba20a33
4afdbb8c545fd630ea7db775da747b2f
d41d8cd98f00b204e9800998ecf8427e
d41d8cd98f00b204e9800998ecf8427e
69ff9199b5d142be902c137cfeaa8d3d
bitstream.checksumAlgorithm.fl_str_mv MD5
MD5
MD5
MD5
MD5
repository.name.fl_str_mv Repositorio Institucional Universidad de Antioquia
repository.mail.fl_str_mv andres.perez@udea.edu.co
_version_ 1812173235889897472
spelling Adhikari, KaustubhFuentes Guajardo, MacarenaQuinto Sánchez, Mirsha EmmanuelMendoza Revilla, JavierChacón Duque, Juan CamiloAcuña Alonzo, VíctorJaramillo, ClaudiaArias Pérez, William HernánBarquera Lozano, RodrigoMacín Pérez, GastónGómez Valdés, JorgeVillamil Ramírez, HugoRamallo, VirginiaSilva de Cerqueira, Caio CesarHurtado, MalenaGranja, VanessaGallo, CarlaPoletti, GiovanniSchuler Faccini, LaviniaSalzano, Francisco M.Cátira Bortolini, MariaCanizales Quinteros, SamuelCheeseman, MichaelRosique Gracia, JavierBedoya Berrío, Gabriel de JesúsRothhammer, FranciscoHeadon, DenisGonzález José, RolandoBalding, DavidRuiz Linares, Andrés2019-08-09T19:40:23Z2019-08-09T19:40:23Z2016Adhikari, K., Fuentes Guajardo, M., Quinto Sanchez, M. E., Mendoza Revilla, J., Chacón Duque, J. C., & Acuña Alonzo, V. (2016). A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation. Nature Communications, (7), 1-11. DOI: 10.1038/ncomms11616http://hdl.handle.net/10495/11631DOI 10.1038/ncomms116162041-1723ABSTRACT: We report a genome-wide association scan for facial features in B6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P valueso5 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 B3,000 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.application/pdfinfo: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_970fb48d4fbd8a85Atribución-NoComercial-SinDerivadas 2.5 Colombiainfo:eu-repo/semantics/openAccesshttp://creativecommons.org/licenses/by-nc-nd/2.5/co/http://purl.org/coar/access_right/c_abf2https://creativecommons.org/licenses/by-nc-nd/4.0/Genoma humanoAntropología físicaMorfología facialLatinoamericanosA genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variationGrupo de Investigación Medio Ambiente y Sociedad (MASO)Reino UnidoengNature Communications1117LICENSElicense.txtlicense.txttext/plain; charset=utf-81748http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/5/license.txt8a4605be74aa9ea9d79846c1fba20a33MD55CC-LICENSElicense_urllicense_urltext/plain; charset=utf-849http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/2/license_url4afdbb8c545fd630ea7db775da747b2fMD52license_textlicense_texttext/html; charset=utf-80http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/3/license_textd41d8cd98f00b204e9800998ecf8427eMD53license_rdflicense_rdfLicenciaapplication/rdf+xml; charset=utf-80http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/4/license_rdfd41d8cd98f00b204e9800998ecf8427eMD54ORIGINALKaustubhAdhikeri_2016_GenomeWideAssociation.pdfKaustubhAdhikeri_2016_GenomeWideAssociation.pdfArtículo de Revistaapplication/pdf1452586http://bibliotecadigital.udea.edu.co/bitstream/10495/11631/1/KaustubhAdhikeri_2016_GenomeWideAssociation.pdf69ff9199b5d142be902c137cfeaa8d3dMD5110495/11631oai:bibliotecadigital.udea.edu.co:10495/116312021-05-14 11:29:31.473Repositorio Institucional Universidad de Antioquiaandres.perez@udea.edu.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

Publicaciones similares