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

Fan Liu; Andreas Wollstein; PG Hysi; GA Ankra-Badu; TD Spector; D Park; M Larsson; DL Duffy; GW Montgomery; DA Mackey; Susan Walsh; Oscar Lao Grueso; Bert Hofman; Fernando Rivadeneira; Hans Vingerling; André Uitterlinden; NG Martin; CJ Hammond; Manfred Kayser; G Zhu

doi:10.1371/journal.pgen.1000934

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

Fan Liu, Andreas Wollstein, PG Hysi, GA Ankra-Badu, TD Spector, D Park, M Larsson, DL Duffy, GW Montgomery, DA Mackey, Susan Walsh, Oscar Lao Grueso, Bert Hofman, Fernando Rivadeneira, Hans Vingerling, André Uitterlinden, NG Martin, CJ Hammond, Manfred Kayser, G Zhu

Research output: Contribution to journal › Article › Academic › peer-review

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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.

Original language	Undefined/Unknown
Journal	PLoS Genetics (print)
Volume	6
Issue number	5
DOIs	https://doi.org/10.1371/journal.pgen.1000934
Publication status	Published - 2010

Research programs

EMC MGC-02-26-01
EMC MM-01-39-02
EMC NIHES-01-64-01
EMC OR-01-60-01

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10.1371/journal.pgen.1000934

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http://hdl.handle.net/1765/28551

Cite this

Liu, F., Wollstein, A., Hysi, PG., Ankra-Badu, GA., Spector, TD., Park, D., Larsson, M., Duffy, DL., Montgomery, GW., Mackey, DA., Walsh, S., Lao Grueso, O., Hofman, B., Rivadeneira, F., Vingerling, H., Uitterlinden, A., Martin, NG., Hammond, CJ., Kayser, M., & Zhu, G. (2010). Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci. PLoS Genetics (print), 6(5). https://doi.org/10.1371/journal.pgen.1000934

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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.",

author = "Fan Liu and Andreas Wollstein and PG Hysi and GA Ankra-Badu and TD Spector and D Park and M Larsson and DL Duffy and GW Montgomery and DA Mackey and Susan Walsh and {Lao Grueso}, Oscar and Bert Hofman and Fernando Rivadeneira and Hans Vingerling and Andr{\'e} Uitterlinden and NG Martin and CJ Hammond and Manfred Kayser and G Zhu",

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Liu, F, Wollstein, A, Hysi, PG, Ankra-Badu, GA, Spector, TD, Park, D, Larsson, M, Duffy, DL, Montgomery, GW, Mackey, DA, Walsh, S, Lao Grueso, O, Hofman, B , Rivadeneira, F , Vingerling, H , Uitterlinden, A, Martin, NG, Hammond, CJ, Kayser, M & Zhu, G 2010, 'Digital Quantification of Human Eye Color Highlights Genetic Association of Three New Loci', PLoS Genetics (print), vol. 6, no. 5. https://doi.org/10.1371/journal.pgen.1000934

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AU - Liu, Fan

AU - Wollstein, Andreas

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AU - Ankra-Badu, GA

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AU - Larsson, M

AU - Duffy, DL

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AU - Mackey, DA

AU - Walsh, Susan

AU - Lao Grueso, Oscar

AU - Hofman, Bert

AU - Rivadeneira, Fernando

AU - Vingerling, Hans

AU - Uitterlinden, André

AU - Martin, NG

AU - Hammond, CJ

AU - Kayser, Manfred

AU - Zhu, G

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