147322 - genome wide association study.pdf (816.7 kB)
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color
journal contribution
posted on 2023-05-21, 03:29 authored by Simcoe, M, Valdes, A, Liu, F, Furlotte, NA, Evans, DM, Hemani, G, Ring, SM, Smith, GD, Duffy, DL, Zhu, G, Gordon, SD, Medland, SE, Vuckovic, D, Girotto, G, Sala, C, Catamo, E, Concas, MP, Brumat, M, Gasparini, P, Toniolo, D, Cocca, M, Robino, A, Yazar, S, Alexander HewittAlexander Hewitt, Wu, W, Kraft, P, Hammond, CJ, Shi, Y, Chen, Y, Zeng, C, Klaver, CCW, Uitterlinden, AG, Ikram, MA, Hamer, MA, van Duijn, CM, Nijsten, T, Han, J, Mackey, DA, Martin, NG, Cheng, CY, Hinds, DA, Spector, TD, Kayser, M, Hysi, PGHuman 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.
History
Publication title
Science AdvancesVolume
7Issue
11Pagination
1-11ISSN
2375-2548Department/School
Menzies Institute for Medical ResearchPublisher
American Association for the Advancement of SciencePlace of publication
United StatesRights statement
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 https://creativecommons.org/licenses/by-nc/4.0/Repository Status
- Open