Projects per year
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.
FingerprintDive into the research topics of 'A genome-wide association study identifies multiple loci for variation in human ear morphology'. Together they form a unique fingerprint.
- 2 Finished
1/01/13 → 31/12/15
Burdon, T., Argyle, D., Ashworth, C., Beard, P., Brunton, P., Burt, D., Clinton, M., Dunn, I., Farquharson, C., Headon, D., Hocking, P., Hohenstein, P., Hume, D., Jackson, I., McColl, B., McGrew, M., McLachlan, G., Sang, H., Summers, K. & Whitelaw, B.
1/04/12 → 31/03/17