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 Ear morphology. The EFO term outer ear morphology trait 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: outer ear morphology trait

SCORE TYPE:

P-Value

DATE ADDED:

2017-05-02

DATE UPDATED:

2024-04-25

SPECIES:

AUTHORS:

K Adhikari, G Reales, AJ Smith, E Konka, J Palmen, M Quinto-Sanchez, V Acuña-Alonzo, C Jaramillo, W Arias, M Fuentes, M Pizarro, R Barquera Lozano, G Macín 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, F Rothhammer, G Bedoya, R Calderón, J Rosique, M Cheeseman, MF Bhutta, SE Humphries, R Gonzalez-José, D Headon, D Balding, A Ruiz-Linares

TITLE:

A genome-wide association study identifies multiple loci for variation in human ear morphology.

JOURNAL:

Nature communications Jun 2015, Vol 6, pp. 7500

ABSTRACT:

Here we report a genome-wide association study for non-pathological pinna morphology in over 5,000 Latin Americans. We find genome-wide significant association at seven genomic regions affecting: lobe size and attachment, folding of antihelix, helix rolling, ear protrusion and antitragus size (linear regression P values 2 × 10(-8) to 3 × 10(-14)). Four traits are associated with a functional variant in the Ectodysplasin A receptor (EDAR) gene, a key regulator of embryonic skin appendage development. We confirm expression of Edar in the developing mouse ear and that Edar-deficient mice have an abnormally shaped pinna. Two traits are associated with SNPs in a region overlapping the T-Box Protein 15 (TBX15) gene, a major determinant of mouse skeletal development. Strongest association in this region is observed for SNP rs17023457 located in an evolutionarily conserved binding site for the transcription factor Cartilage paired-class homeoprotein 1 (CART1), and we confirm that rs17023457 alters in vitro binding of CART1. PUBMED: 26105758
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