Digital quantification of human eye color highlights genetic association of three new loci

Liu, Fan, Wollstein, Andreas, Hysi, Pirro G., Ankra-Badu, Georgina A., Spector, Timothy D., Park, Daniel, Zhu, Gu, Larsson, Mats, Duffy, David L., Montgomery, Grant W., Mackey, David A., Walsh, Susan, Lao, Oscar, Hofman, Albert, Rivadeneira, Fernando, Vingerling, Johannes R., Uitterlinden, Andrew G., Martin, Nicholas G., Hammond, Christopher J. and Kayser, Manfred (2010) Digital quantification of human eye color highlights genetic association of three new loci. PLoS Genetics, 6 5: e1000934-1-e1000934-15. doi:10.1371/journal.pgen.1000934

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Author Liu, Fan
Wollstein, Andreas
Hysi, Pirro G.
Ankra-Badu, Georgina A.
Spector, Timothy D.
Park, Daniel
Zhu, Gu
Larsson, Mats
Duffy, David L.
Montgomery, Grant W.
Mackey, David A.
Walsh, Susan
Lao, Oscar
Hofman, Albert
Rivadeneira, Fernando
Vingerling, Johannes R.
Uitterlinden, Andrew G.
Martin, Nicholas G.
Hammond, Christopher J.
Kayser, Manfred
Title Digital quantification of human eye color highlights genetic association of three new loci
Journal name PLoS Genetics   Check publisher's open access policy
ISSN 1553-7390
Publication date 2010-05-06
Sub-type Article (original research)
DOI 10.1371/journal.pgen.1000934
Open Access Status DOI
Volume 6
Issue 5
Start page e1000934-1
End page e1000934-15
Total pages 15
Place of publication San Francisco, CA, U.S.A.
Publisher Public Library of Science
Collection year 2011
Language eng
Formatted 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.
(c) 2010 Liu et al.
Keyword Genome-wide association
Human iris color
Skin pigmentation
Q-Index Code C1
Q-Index Status Confirmed Code
Institutional Status UQ
Additional Notes Article number e1000934

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
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Citation counts: TR Web of Science Citation Count  Cited 64 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 76 times in Scopus Article | Citations
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Created: Wed, 30 Mar 2011, 11:39:06 EST by Debbie Banks on behalf of School of Medicine