A genome-wide association scan implicates DCHS2, RUNX2, GLI3, PAX1 and EDAR in human facial variation
作者： Kaustubh Adhikari , Macarena Fuentes-Guajardo , Mirsha Quinto-Sánchez , Javier Mendoza-Revilla , Juan Camilo Chacón-Duque
DOI: 10.1038/NCOMMS11616
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摘要: We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. evaluated 14 traits on an ordinal scale and found significant (P values<5 × 10−8) at single-nucleotide polymorphisms (SNPs) four genomic regions three nose-related traits: columella inclination (4q31), nose bridge breadth (6p21) wing (7p13 20p11). In subsample of ∼3,000 individuals we obtained quantitative related to 9 the phenotypes and, also, measure nasion position. Quantitative analyses confirmed ordinal-based associations, identified SNPs 2q12 associated chin protrusion, replicated reported position with PAX3. Strongest 2q12, 4q31, 6p21 7p13 was observed EDAR, DCHS2, RUNX2 GLI3 genes, respectively. Associated 20p11 extend PAX1. Consistent effect EDAR documented alterations mandible length mice modified Edar funtion.
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sci-hub.se 参考文章(69)
Hugo Reyes-Centeno, Mark Hubbe, Tsunehiko Hanihara, Chris Stringer, Katerina Harvati, Testing modern human out-of-Africa dispersal models and implications for modern human origins Journal of Human Evolution. ,vol. 87, pp. 95- 106 ,(2015) , 10.1016/J.JHEVOL.2015.06.008
Dennis C. Dirkmaat, A companion to forensic anthropology Wiley-Blackwell. ,(2015)
Alex W. Monreal, Betsy M. Ferguson, Denis J. Headon, Summer L. Street, Paul A. Overbeek, Jonathan Zonana, Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia Nature Genetics. ,vol. 22, pp. 366- 369 ,(1999) , 10.1038/11937
Kaustubh Adhikari, Guillermo Reales, Andrew J. P. Smith, Esra Konka, Jutta Palmen, Mirsha Quinto-Sanchez, Victor Acuña-Alonzo, Claudia Jaramillo, William Arias, Macarena Fuentes, María Pizarro, Rodrigo Barquera Lozano, Gastón Macín Pérez, Jorge Gómez-Valdés, Hugo Villamil-Ramírez, Tábita Hunemeier, Virginia Ramallo, Caio C. Silva de Cerqueira, Malena Hurtado, Valeria Villegas, Vanessa Granja, Carla Gallo, Giovanni Poletti, Lavinia Schuler-Faccini, Francisco M. Salzano, Maria- Cátira Bortolini, Samuel Canizales-Quinteros, Francisco Rothhammer, Gabriel Bedoya, Rosario Calderón, Javier Rosique, Michael Cheeseman, Mahmood F. Bhutta, Steve E. Humphries, Rolando Gonzalez-José, Denis Headon, David Balding, Andrés Ruiz-Linares, A genome-wide association study identifies multiple loci for variation in human ear morphology Nature Communications. ,vol. 6, pp. 7500- 7500 ,(2015) , 10.1038/NCOMMS8500
K. E. Sears, A. Goswami, J. J. Flynn, L. A. Niswander, The correlated evolution of Runx2 tandem repeats, transcriptional activity, and facial length in carnivora. Evolution & Development. ,vol. 9, pp. 555- 565 ,(2007) , 10.1111/J.1525-142X.2007.00196.X
Peter Claes, Denise K. Liberton, Katleen Daniels, Kerri Matthes Rosana, Ellen E. Quillen, Laurel N. Pearson, Brian McEvoy, Marc Bauchet, Arslan A. Zaidi, Wei Yao, Hua Tang, Gregory S. Barsh, Devin M. Absher, David A. Puts, Jorge Rocha, Sandra Beleza, Rinaldo W. Pereira, Gareth Baynam, Paul Suetens, Dirk Vandermeulen, Jennifer K. Wagner, James S. Boster, Mark D. Shriver, Modeling 3D Facial Shape from DNA PLoS Genetics. ,vol. 10, pp. e1004224- 14 ,(2014) , 10.1371/JOURNAL.PGEN.1004224
Paul F. O’Reilly, Clive J. Hoggart, Yotsawat Pomyen, Federico C. F. Calboli, Paul Elliott, Marjo-Riitta Jarvelin, Lachlan J. M. Coin, MultiPhen: Joint Model of Multiple Phenotypes Can Increase Discovery in GWAS PLoS ONE. ,vol. 7, pp. e34861- ,(2012) , 10.1371/JOURNAL.PONE.0034861
Doug Speed, Gibran Hemani, Michael R. Johnson, David J. Balding, Improved Heritability Estimation from Genome-wide SNPs American Journal of Human Genetics. ,vol. 91, pp. 1011- 1021 ,(2012) , 10.1016/J.AJHG.2012.10.010
E. Ann Carson, Maximum likelihood estimation of human craniometric heritabilities. American Journal of Physical Anthropology. ,vol. 131, pp. 169- 180 ,(2006) , 10.1002/AJPA.20424
Pierre Le Pabic, Carrie Ng, Thomas F. Schilling, Fat-Dachsous Signaling Coordinates Cartilage Differentiation and Polarity during Craniofacial Development PLoS Genetics. ,vol. 10, pp. e1004726- ,(2014) , 10.1371/JOURNAL.PGEN.1004726