DESCRIPTION:

List of positional candidate genes after correcting for multiple testing and controlling the false discovery rate from genome wide association studies (GWAS) retrieved from the NHGRI-EBI Catalog of published genome-wide association studies (http://www.ebi.ac.uk/gwas/). The disease/trait examined in this study, as reported by the authors, was middle facial morphology traits (quantitative measurement). The EFO term nose morphology measurement was annotated to this set after curation by NHGRI-EBI. Intergenic SNPS were mapped to both the upstream and downstream gene. P-value uploaded. This gene set was generated using gwas2gs v. 0.1.8 and the GWAS Catalog v. 1.0.1.

LABEL:

GWAS: nose morphology measurement

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

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, L Schuler-Faccini, FM Salzano, MC Bortolini, S Canizales-Quinteros, M Cheeseman, J Rosique, G Bedoya, F Rothhammer, D Headon, R González-José, D Balding, A Ruiz-Linares

TITLE:

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

JOURNAL:

Nature communications May 2016, Vol 7, pp. 11616

ABSTRACT:

We report a genome-wide association scan for facial features in ∼6,000 Latin Americans. We evaluated 14 traits on an ordinal scale and found significant association (P values<5 × 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 ∼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. PUBMED: 27193062
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