ArticleScience advances2021
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color.
Open access · goldAbstract read
In one paragraph
Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 4 of them syntheses that pooled it.
0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed, 4 pooled it
7.5field-weighted citation impact, top 2% of its field
What it found
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Who cites it
43 citing papers in PubMed, 4 syntheses or guidelines pooled it, 86 citations in OpenAlex.
- GWAS for primary angle-closure glaucoma identifies loci related to ocular biometry and morphology.Nature communications · 2025Pooled it
- Linking Iris Cis-Regulatory Variants to Primary Angle-Closure Glaucoma Via Clinical Imaging and Multiomics.Investigative ophthalmology & visual science · 2024Pooled it
- Ancestry-independent risk of venous thromboembolism in individuals with sickle cell trait vs factor V Leiden.Blood advances · 2024Pooled it
- Advancement in Human Face Prediction Using DNA.Genes · 2023Pooled it
- Beyond the Classics: The Synergy of AI and Genomics Reveals an Expanded Repertoire of Pigmentation Genes.Journal of experimental zoology. Part B, Molecular and developmental evolution · 2026Review
- GenoEye: A machine learning-based framework for the prediction of intermediate eye color phenotypes.Journal of forensic sciences · 2026Article
- Article
- Identification of Body Color-Related QTLs in Leopard Coral Grouper (Animals : an open access journal from MDPI · 2026Article
- Genome-wide association study reveals the genetic basis of meat quality traits in Sichuan Shelduck.Poultry science · 2026Article
- Haplotype-Based Analysis of OCA2 Variants in Oculocutaneous Albinism.Pigment cell & melanoma research · 2026Article
- Genetic analysis of iris pigmentation in Swiss pig breeds identifies a missense KITLG variant as a potential causal factor for pale and heterochromatic irises.Genetics, selection, evolution : GSE · 2026Article
- A comparative GWAS of eye colour in light and dark eye genetic backgrounds defined by HERC2 rs12913832 polymorphism in a Canadian cohort of European ancestry.Scientific reports · 2026Article
- Genome-wide association study reveals genetic architecture and evolution of human retinal pigmentation.Science advances · 2026Article
- Multi-trait analysis of pigmentation traits in relation to skin and ocular cancers: Relevance for evolutionary medicine.Evolution, medicine, and public health · 2026Article
- Review
- Genetics of Skin, Hair, and Eye Color in Human Pigmentation Disorders.Annals of human genetics · 2025Review
- [Application of HIrisPlex-S System in Forensic DNA Phenotyping].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2025Article
- Combined genome-wide association study of facial traits in Europeans increases explained variance and improves prediction.Nature communications · 2025Article
- Pigmentation and Retinal Pigment Epithelium Thickness: A Study of the Phenotypic and Genotypic Relationships Between Ocular and Extraocular Pigmented Tissues.Pigment cell & melanoma research · 2025Article
- Iris Pigmented Lesions: Unraveling the Genetic Basis of Iris Freckles and Nevi.Investigative ophthalmology & visual science · 2025Article
Corrections and comments
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Authors and funding
46 authors at 16 institutions in 7 countries.
Mark SimcoeDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0003-2432-0810
Ana ValdesDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0003-1141-4471
Fan LiuDepartment of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0001-9241-8161
Nicholas A Furlotte23andMe Inc., Sunnyvale, CA, USA.
David M EvansUniversity of Queensland Diamantina Institute, University of Queensland, Brisbane, Queensland, Australia.ORCID 0000-0003-0663-4621
Gibran HemaniMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0003-0920-1055
Susan M RingMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0003-3103-9330
George Davey SmithMRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.ORCID 0000-0002-1407-8314
David L DuffyQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-7227-632X
Gu ZhuQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0002-5691-1917
Scott D GordonQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0001-7623-328X
Sarah E MedlandQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-1382-380X
Dragana VuckovicDepartment of Medical Sciences, University of Trieste, Trieste, Italy.
Giorgia GirottoDepartment of Medical Sciences, University of Trieste, Trieste, Italy.
Cinzia SalaDivision of Genetics of Common Disorders, S. Raffaele Scientific Institute, Milan, Italy.ORCID 0000-0003-2514-2075
Eulalia CatamoDepartment of Medical Sciences, University of Trieste, Trieste, Italy.ORCID 0000-0002-4701-9134
Maria Pina ConcasInstitute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.ORCID 0000-0003-3598-2537
Marco BrumatDepartment of Medical Sciences, University of Trieste, Trieste, Italy.
Paolo GaspariniDepartment of Medical Sciences, University of Trieste, Trieste, Italy.
Daniela TonioloDivision of Genetics of Common Disorders, S. Raffaele Scientific Institute, Milan, Italy.ORCID 0000-0001-9545-6032
Massimiliano CoccaInstitute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.ORCID 0000-0002-1127-7596
Antonietta RobinoInstitute for Maternal and Child Health IRCCS "Burlo Garofolo", Trieste, Italy.ORCID 0000-0003-2152-2353
Seyhan YazarCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.
Alex HewittCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.ORCID 0000-0002-5123-5999
Wenting WuDepartment of Epidemiology, Fairbanks School of Public Health, Indiana University, and Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA.ORCID 0000-0003-0982-771X
Peter KraftProgram in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.ORCID 0000-0002-4472-8103
Christopher J HammondDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0002-3227-2620
Yuan ShiSingapore Eye Research Institute, Singapore National Eye Center, Singapore.
Yan ChenDepartment of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Changqing ZengKey Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.ORCID 0000-0002-0037-1771
Caroline C W KlaverDepartment of Ophthalmology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Andre G UitterlindenDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
M Arfan IkramDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Merel A HamerDepartment of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
Cornelia M van DuijnDepartment of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0002-2374-9204
Tamar NijstenDepartment of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.ORCID 0000-0001-9940-2875
Jiali HanDepartment of Epidemiology, Fairbanks School of Public Health, Indiana University, and Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA.
David A MackeyCentre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.ORCID 0000-0001-7914-4709
Nicholas G MartinQIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-4069-8020
Ching-Yu ChengSingapore Eye Research Institute, Singapore National Eye Center, Singapore.
23andMe Research Team
International Visible Trait Genetics Consortium
David A Hinds23andMe Inc., Sunnyvale, CA, USA.ORCID 0000-0002-4911-803X
Timothy D SpectorDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK.ORCID 0000-0002-9795-0365
Manfred KayserDepartment of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands. pirro.hysi@kcl.ac.uk.
Pirro G HysiDepartment of Twins Research and Genetic Epidemiology, King's College London, London, UK. pirro.hysi@kcl.ac.uk.ORCID 0000-0001-5752-2510
Erasmus MC · NLQIMR Berghofer Medical Research Institute · AUUniversity of Trieste · ITKing's College London · GBChinese Academy of Sciences · CNIRCCS Materno Infantile Burlo Garofolo · ITLions Eye Institute · AUUniversity of Bristol · GB23andMe (United States) · USIndiana University Health · USSingapore National Eye Center · SGVita-Salute San Raffaele University · ITHarvard University · USRadboud University Nijmegen · NLThe University of Queensland · AUUniversity of Nottingham · GB
Funding
Cancer Epidemiology Cohort in Male Health ProfessionalsU01CA167552 · NCI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI Lorelei Mucci, Walter C. Willett · 2017 to 2026
$17.0MCancer Epidemiology Cohort in Male Health ProfessionalsUM1CA167552 · NCI · HARVARD SCHOOL OF PUBLIC HEALTH · PI WILLETT, WALTER C. · 2012 to 2016
$11.5MMolecular Epidemiology of Alcoholism 3 - EDAC FamiliesR01AA013321 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2001 to 2005
$4.3MMolecular Epidemiology of Alcoholism 2- Big SibshipsR01AA013320 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 2003 to 2007
$3.1MGenetic Epidemiology of Pathological GamblingR01MH066206 · NIMH · UNIVERSITY OF MISSOURI-COLUMBIA · PI SLUTSKE, WENDY S · 2003 to 2007
$2.5MMolecular Epidemiology of Alcoholism 1: Candidate GeneR01AA013326 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI MARTIN, NICHOLAS G · 2001 to 2005
$2.1MVARIATION IN THE EFFECTS OF ALCOHOL ON LIVER FUNCTIONR01AA014041 · NIAAA · QUEENSLAND INSTITUTE OF MEDICAL RESEARCH · PI WHITFIELD, JOHN B · 2003 to 2007
$2.1MPERSISTENCE &CHANGE IN DRINKING HABITS: TWIN STUDYR01AA007535 · NIAAA · WASHINGTON UNIVERSITY · PI HEATH, ANDREW C. · 1989 to 1996
–Medical Research Council G9815508Medical Research Council MC_PC_15018Medical Research Council MC_PC_19009Medical Research Council MC_UU_00011/1Medical Research Council MC_UU_12013/4NCI NIH HHS U01 CA167552NCI NIH HHS UM1 CA167552NIAAA NIH HHS R01 AA007535NIAAA NIH HHS R01 AA013320NIAAA NIH HHS R01 AA013321NIAAA NIH HHS R01 AA013326NIAAA NIH HHS R01 AA014041NIMH NIH HHS R01 MH066206Wellcome Trust 208806/Z/17/Z
Abstract
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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