A genome-wide association study identifies multiple loci for variation in human ear morphology
2015
Here we report a
genome-wide association studyfor non-pathological
pinnamorphology 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
antitragussize (linear regression P values 2 × 10−8 to 3 × 10−14). Four traits are associated with a functional variant in the
EctodysplasinA
receptor(EDAR) gene, a key regulator of embryonic
skin appendagedevelopment. 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-BoxProtein 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.
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