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

Nat Commun 2015 Jun 24;6:7500. Epub 2015 Jun 24.

Department of Genetics, Evolution and Environment, UCL Genetics Institute, University College London, London WC1E 6BT, UK.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1038/ncomms8500DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4491814PMC
June 2015
58 Reads

Publication Analysis

Top Keywords

genome-wide association
12
association study
8
traits associated
8
developing mouse
4
ear edar-deficient
4
mouse ear
4
expression edar
4
confirm expression
4
edar-deficient mice
4
edar developing
4
shaped pinna
4
snps region
4
region overlapping
4
associated snps
4
pinna traits
4
abnormally shaped
4
development confirm
4
mice abnormally
4
skin appendage
4
functional variant
4

Similar Publications