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    Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci

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    Author
    Liu, F; Wollstein, A; Hysi, PG; Ankra-Badu, GA; Spector, TD; Park, D; Zhu, G; Larsson, M; Duffy, DL; Montgomery, GW; ...
    Date
    2010-05-01
    Source Title
    PLoS Genetics
    Publisher
    PUBLIC LIBRARY SCIENCE
    University of Melbourne Author/s
    Mackey, David
    Affiliation
    Ophthalmology (Eye & Ear Hospital)
    Metadata
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    Document Type
    Journal Article
    Citations
    Liu, F., Wollstein, A., Hysi, P. G., Ankra-Badu, G. A., Spector, T. D., Park, D., Zhu, G., Larsson, M., Duffy, D. L., Montgomery, G. W., Mackey, D. A., Walsh, S., Lao, O., Hofman, A., Rivadeneira, F., Vingerling, J. R., Uitterlinden, A. G., Martin, N. G., Hammond, C. J. & Kayser, M. (2010). Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci. PLOS GENETICS, 6 (5), https://doi.org/10.1371/journal.pgen.1000934.
    Access Status
    Open Access
    URI
    http://hdl.handle.net/11343/256553
    DOI
    10.1371/journal.pgen.1000934
    Abstract
    Previous studies have successfully identified genetic variants in several genes associated with human iris (eye) color; however, they all used simplified categorical trait information. Here, we quantified continuous eye color variation into hue and saturation values using high-resolution digital full-eye photographs and conducted a genome-wide association study on 5,951 Dutch Europeans from the Rotterdam Study. Three new regions, 1q42.3, 17q25.3, and 21q22.13, were highlighted meeting the criterion for genome-wide statistically significant association. The latter two loci were replicated in 2,261 individuals from the UK and in 1,282 from Australia. The LYST gene at 1q42.3 and the DSCR9 gene at 21q22.13 serve as promising functional candidates. A model for predicting quantitative eye colors explained over 50% of trait variance in the Rotterdam Study. Over all our data exemplify that fine phenotyping is a useful strategy for finding genes involved in human complex traits.

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