Journal article
A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
K Adhikari, M Fuentes-Guajardo, M Quinto-Sánchez, J Mendoza-Revilla, J Camilo Chacón-Duque, V Acuña-Alonzo, C Jaramillo, W Arias, RB Lozano, GM Pérez, J Gómez-Valdés, H Villamil-Ramírez, T Hunemeier, V Ramallo, CC Silva De Cerqueira, M Hurtado, V Villegas, V Granja, C Gallo, G Poletti Show all
Nature Communications | NATURE PUBLISHING GROUP | Published : 2016
DOI: 10.1038/ncomms11616
Open access
Abstract
We report a genome-wide association scan for facial features in â 1/46,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 10 â '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 â 1/43,000 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..
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Awarded by UK Research and Innovation
Funding Acknowledgements
We thank the volunteers for their enthusiastic support for this research. We also thank Esra Konca, Ivan Pulgar-Alarcon, Alvaro Alvarado, Monica Ballesteros Romero, Ricardo Cebrecos, Miguel Angel Contreras Sieck, Francisco de Avila Becerril, Joyce De la Piedra, Maria Teresa Del Solar, Paola Everardo Martinez, William Flores, Martha Granados Riveros, Rosilene Paim, Ricardo Gunski, Sergeant Joao Felisberto Menezes Cavalheiro, Major Eugenio Correa de Souza Junior, Wendy Hart, Ilich Jafet Moreno, Paola Leon-Mimila, Francisco Quispealaya, Diana Rogel Diaz, Ruth Rojas, Norman Russell and Vanessa Sarabia, for assistance with volunteer recruitment, sample processing and data entry. We are indebted to Emiliano Bellini (www.belliniplastica.blogspot.com) for the illustration in Fig. 1, and to Elizabeth Guajardo Celsi for some of the face drawings used in the phenotyping software. We thank three anonymous reviewers for thoughtful comments that significantly improved this paper. We are very grateful to the institutions that kindly provided facilities for the assessment of volunteers, including: Escuela Nacional de Antropologia e Historia and Universidad Nacional Autonoma de Mexico (Mexico); Universidade Federal do Rio Grande do Sul (Brasil); 13 degrees Companhia de Comunicacoes Mecanizada do Exercito Brasileiro (Brasil); Pontificia Universidad Catolica del Peru, Universidad de Lima and Universidad Nacional Mayor de San Marcos (Peru). This work was funded by grants from the Leverhulme Trust (F/07 134/DF to A. R.-L), BBSRC (BB/I021213/1 to A. R.-L), Universidad de Antioquia (CODI sostenibilidad de grupos 2013-2014 and MASO 2013-2014), Conselho Nacional de Desenvolvimento Cientifico e Tecnologico, Fundacao de Amparo a Pesquisa do Estado do Rio Grande do Sul (Apoio a Nucleos de Excelencia Program) and Fundacao de Aperfeicoamento de Pessoal de Nivel Superior.