Journal
NATURE COMMUNICATIONS
Volume 7, Issue -, Pages -Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/ncomms11616
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Funding
- Leverhulme Trust [F/07 134/DF]
- BBSRC [BB/I021213/1]
- Universidad de Antioquia (CODI)
- Universidad de Antioquia (MASO)
- 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)
- Fundacao de Aperfeicoamento de Pessoal de Nivel Superior
- BBSRC [BB/I021213/1] Funding Source: UKRI
- EPSRC [EP/C533542/1] Funding Source: UKRI
- Biotechnology and Biological Sciences Research Council [BB/I021213/1] Funding Source: researchfish
- Engineering and Physical Sciences Research Council [EP/C533542/1] Funding Source: researchfish
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We report a genome-wide association scan for facial features in similar to 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 similar to 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.
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