西亚试剂：Digital Quantification of Human Eye Color Highlights Geneti

Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci
Fan Liu1, Andreas Wollstein1,2, Pirro G. Hysi3, Georgina A. Ankra-Badu3, Timothy D. Spector3, Daniel Park4, Gu Zhu4, Mats Larsson4, David L. Duffy4, Grant W. Montgomery4, David A. Mackey5, Susan Walsh1, Oscar Lao1, Albert Hofman6, Fernando Rivadeneira6,7, Johannes R. Vingerling6,8, André G. Uitterlinden6,7, Nicholas G. Martin4, Christopher J. Hammond3, Manfred Kayser1*

1 Department of Forensic Molecular Biology, Erasmus University Medical Center, Rotterdam, The Netherlands, 2 Cologne Center for Genomics (CCG), University of Cologne, Cologne, Germany, 3 Department of Twin Research and Genetic Epidemiology, King's College London, London, United Kingdom, 4 Queensland Institute of Medical Research, Brisbane, Australia, 5 Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia, 6 Department of Epidemiology, Erasmus University Medical Center, Rotterdam, The Netherlands, 7 Department of Internal Medicine, Erasmus University Medical Center, Rotterdam, The Netherlands, 8 Department of Ophthalmology, Erasmus University Medical Center, Rotterdam, The Netherlands

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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