Journal
PLOS GENETICS
Volume 6, Issue 5, Pages -Publisher
PUBLIC LIBRARY SCIENCE
DOI: 10.1371/journal.pgen.1000934
Keywords
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Categories
Funding
- Netherlands Genomics Initiative (NGI)
- Netherlands Organization for Scientific Research (NWO) [050-060-810, 175.010.2005.011, 911-03-012]
- Netherlands Forensic Institute
- Erasmus University Medical Center, Erasmus University Rotterdam
- Netherlands Organization for the Health Research and Development (ZonMw)
- RIDE [014-93-015]
- Ministry of Education, Culture, and Science
- European Commission (DG XII)
- Municipality of Rotterdam
- Lijf en Leven, Krimpen, and Lek
- MD Fonds, Utrecht. Oogfonds Nederland, Utrecht
- Stichting Nederlands Oogheelkundig Onderzoek, Nijmegen, Rotterdam
- Swart van Essen, Rotterdam
- Bevordering van Volkskracht, Rotterdam
- Blindenhulp, The Hague
- OOG, The Hague
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid, Doorn
- Blinden-Penning, Amsterdam
- Blindenhulp, Gravenzande
- Henkes Stichting, Rotterdam
- Topcon Europe BV, Capelle aan de IJssel
- Medical Workshop BV, Groningen
- Heidelberg Engineering, Dossenheim, Germany
- Wellcome Trust
- EU [HEALTH-F2-2008-201865-GEFOS, HEALTH-F4-2007-201413, QLG2-CT-2002-01254]
- Department of Health via the National Institute for Health Research (NIHR)
- Biotechnology and Biological Sciences Research Council (BBSRC) [G20234]
- National Institutes of Health (NIH) National Eye Institute [1RO1EY018246]
- NIH Center for Inherited Diseases Research (CIDR)
- Australian National Health and Medical Research Council (NHMRC) [241944, 339462, 389927, 389875, 389891, 389892, 389938, 443036, 442915, 442981, 496739, 552485, 552498]
- Australian Research Council [A7960034, A79906588, A79801419, DP0212016, DP0343921]
- National Institutes of Health National Cancer Institute [CA88363]
- Ministry for Health, Welfare, and Sports of the Netherlands
- Rotterdamse Vereniging Blindenbelangen, Rotterdam
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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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