A genome-wide association study identifies multiple loci for variation in human ear morphology.
Nat Commun
; 6: 7500, 2015 Jun 24.
Article
em En
| MEDLINE
| ID: mdl-26105758
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Proteínas com Domínio T
/
Receptor Edar
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Pavilhão Auricular
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Morfogênese
Idioma:
En
Ano de publicação:
2015
Tipo de documento:
Article