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Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color


Simcoe, M and Valdes, A and Liu, F and Furlotte, NA and Evans, DM and Hemani, G and Ring, SM and Smith, GD and Duffy, DL and Zhu, G and Gordon, SD and Medland, SE and Vuckovic, D and Girotto, G and Sala, C and Catamo, E and Concas, MP and Brumat, M and Gasparini, P and Toniolo, D and Cocca, M and Robino, A and Yazar, S and Hewitt, A and Wu, W and Kraft, P and Hammond, CJ and Shi, Y and Chen, Y and Zeng, C and Klaver, CCW and Uitterlinden, AG and Ikram, MA and Hamer, MA and van Duijn, CM and Nijsten, T and Han, J and Mackey, DA and Martin, NG and Cheng, CY and Hinds, DA and Spector, TD and Kayser, M and Hysi, PG, 23andMe Research Team and International Visible Trait Genetics Consortium, Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color, Science Advances, 7, (11) pp. 1-11. ISSN 2375-2548 (2021) [Refereed Article]

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Copyright 2021 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial 4.0 International (CC BY-NC 4.0) License

DOI: doi:10.1126/sciadv.abd1239


Human eye color is highly heritable, but its genetic architecture is not yet fully understood. We report the results of the largest genome-wide association study for eye color to date, involving up to 192,986 European participants from 10 populations. We identify 124 independent associations arising from 61 discrete genomic regions, including 50 previously unidentified. We find evidence for genes involved in melanin pigmentation, but we also find associations with genes involved in iris morphology and structure. Further analyses in 1636 Asian participants from two populations suggest that iris pigmentation variation in Asians is genetically similar to Europeans, albeit with smaller effect sizes. Our findings collectively explain 53.2% (95% confidence interval, 45.4 to 61.0%) of eye color variation using common single-nucleotide polymorphisms. Overall, our study outcomes demonstrate that the genetic complexity of human eye color considerably exceeds previous knowledge and expectations, highlighting eye color as a genetically highly complex human trait.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Expanding Knowledge
Objective Group:Expanding knowledge
Objective Field:Expanding knowledge in the biological sciences
UTAS Author:Hewitt, A (Professor Alex Hewitt)
ID Code:147322
Year Published:2021
Web of Science® Times Cited:16
Deposited By:Menzies Institute for Medical Research
Deposited On:2021-10-26
Last Modified:2021-11-22
Downloads:2 View Download Statistics

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