Journal
SCIENCE ADVANCES
Volume 7, Issue 11, Pages -Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/sciadv.abd1239
Keywords
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Categories
Funding
- Medical Research Council [MC_UU_12013/4]
- U.K. Medical Research Council
- Wellcome Trust [217065/Z/19/Z]
- University of Bristol
- Australian Natural Medical Research Council [1137714]
- Medical Research Council Integrative Epidemiology Unit at the University of Bristol [MC_UU_00011/1]
- Netherlands Organization for Scientific Research (NWO) [91203014]
- Center of Medical Systems Biology (CMSB)
- Hersenstichting Nederland
- Internationale Stichting Alzheimer Onderzoek (ISAO)
- Alzheimer Association [04516]
- Hersenstichting Nederland [12F04(2).76]
- Interuniversity Attraction Poles (IUAP) program
- European Commission [018947 (LSHG-CT-2006-01947)]
- European Community's Seventh Framework Program (FP7/2007-2013)/grant by the European Commission under the program Quality of Life and Management of the Living Resourcesof Fifth Framework Program [HEALTH-F4-2007-201413, QLG2-CT-2002-01254]
- Netherlands Organization for Scientific Research [NWO-RFBR 047.017.043]
- Russian Foundation for Basic Research [NWO-RFBR 047.017.043]
- NIH [UM1 CA167552]
- Channing Division of Network Medicine, Department of Medicine, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA
- Compagnia di San Paolo, Torino, Italy
- Fondazione Cariplo, Italy
- Ministry of Health
- Telethon, Italy
- Italian Ministry of Health
- FVG Region
- Fondo Trieste
- Australian National Health and Medical Research Council [241944, 339462, 389927, 389875, 389891, 389892, 389938, 442915, 442981, 496739, 552485, 552498]
- Australian Research Council [A7960034, A79906588, A79801419, DP0770096, DP0212016, DP0343921]
- FP-5 GenomEUtwin Project [QLG2-CT-2002-01254]
- U.S. NIH (NIH) [AA07535, AA10248, AA13320, AA13321, AA13326, AA14041, MH66206]
- Netherlands Scientific Organization [NWO 480-05-003]
- National Health and Medical Research Council (NHMRC)
- University of Western Australia
- Curtin University
- Telethon Kids Institute
- Women and Infants Research Foundation
- Edith Cowan University
- Murdoch University
- University of Notre Dame Australia
- Raine Medical Research Foundation
- NHMRC [1021105, 1022134]
- Ophthalmic Research Institute of Australia (ORIA)
- Alcon Research Institute
- Lions Eye Institute
- Australian Foundation for the Prevention of Blindness
- Netherlands Organization of Scientific Research NWO [175.010.2005.011, 911-03-012]
- Research Institute for Diseases in the Elderly (RIDE2) [014-93-015]
- Netherlands Genomics Initiative (NGI)/Netherlands Organization for Scientific Research (NWO) [050-060-810]
- Erasmus MC and Erasmus University Rotterdam
- Netherlands Organization for Scientific Research (NWO)
- Netherlands Organization for Health Research and Development (ZonMw)
- Research Institute for Diseases in the Elderly (RIDE)
- Netherlands Genomics Initiative (NGI)
- Ministry of Education, Culture and Science
- Ministry of Health Welfare and Sport
- European Commission (DG XII)
- Municipality of Rotterdam
- Wellcome Trust
- European Community
- Fight for Sight
- National Institute for Health Research (NIHR)
- King's College London
- MRC [MC_UU_00011/1, MC_PC_19009] Funding Source: UKRI
- Wellcome Trust [217065/Z/19/Z] Funding Source: researchfish
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This study, the largest genome-wide association study for eye color to date, identified 124 independent associations from 61 genomic regions. In addition to genes related to melanin pigmentation, genes related to iris morphology and structure were also found. The genetic complexity of human eye color was shown to exceed previous knowledge and expectations.
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.
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