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

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dc.contributor.author Adhikari, Kaustubh
dc.contributor.author Fuentes-Guajardo, Macarena
dc.contributor.author Quinto-Sanchez, Mirsha
dc.contributor.author Mendoza-Revilla, Javier
dc.contributor.author Camilo-Chacon-Duque, Juan
dc.contributor.author Acuna-Alonzo, Victor
dc.contributor.author Jaramillo, Claudia
dc.contributor.author Arias, William
dc.contributor.author Barquera Lozano, Rodrigo
dc.contributor.author Perez, Gaston-Macin
dc.contributor.author Gomez-Valdes, Jorge
dc.contributor.author Villamil-Ramirez, Hugo
dc.contributor.author Hunemeier, Tabita
dc.contributor.author Ramallo, Virginia
dc.contributor.author Silva-de-Cerqueira, Caio-C.
dc.contributor.author Hurtado, Malena
dc.contributor.author Villegas, Valeria
dc.contributor.author Granja, Vanessa
dc.contributor.author Gallo López-Aliaga, Carla Maria
dc.contributor.author Poletti, Giovanni
dc.contributor.author Schuler-Faccini, Lavinia
dc.contributor.author Salzano, Francisco-M.
dc.contributor.author Bortolini, Maria-Catira
dc.contributor.author Canizales-Quinteros, Samuel
dc.contributor.author Cheeseman, Michael
dc.contributor.author Rosique, Javier
dc.contributor.author Bedoya, Gabriel
dc.contributor.author Rothhammer, Francisco
dc.contributor.author Headon, Denis
dc.contributor.author Gonzalez-Jose, Rolando
dc.contributor.author Balding, David
dc.contributor.author Ruiz-Linares, Andres
dc.date.accessioned 2019-02-06T14:45:09Z
dc.date.available 2019-02-06T14:45:09Z
dc.date.issued 2016
dc.identifier.uri https://hdl.handle.net/20.500.12866/5018
dc.description.abstract We report a genome-wide association scan for facial features in approximately 6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 x 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 approximately 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. en_US
dc.language.iso eng
dc.publisher Springer Nature
dc.relation.ispartofseries Nature Communications
dc.rights info:eu-repo/semantics/restrictedAccess
dc.rights.uri https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.subject Adult en_US
dc.subject Anatomic Variation en_US
dc.subject Animals en_US
dc.subject Cadherin Related Proteins/genetics en_US
dc.subject Core Binding Factor Alpha 1 Subunit/genetics en_US
dc.subject Edar Receptor/genetics en_US
dc.subject Face/anatomy & histology en_US
dc.subject Genome-Wide Association Study en_US
dc.subject Humans en_US
dc.subject Latin America en_US
dc.subject Maxillofacial Development/genetics en_US
dc.subject Mice en_US
dc.subject Nerve Tissue Proteins/genetics en_US
dc.subject Paired Box Transcription Factors/genetics en_US
dc.subject Polymorphism, Single Nucleotide en_US
dc.subject Young Adult en_US
dc.subject Zinc Finger Protein Gli3/genetics en_US
dc.title A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation en_US
dc.type info:eu-repo/semantics/article
dc.identifier.doi https://doi.org/10.1038/ncomms11616
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.06.03
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.04.00
dc.subject.ocde https://purl.org/pe-repo/ocde/ford#1.03.00
dc.relation.issn 2041-1723

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