Research ArticleGENETICS

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

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Science Advances  10 Mar 2021:
Vol. 7, no. 11, eabd1239
DOI: 10.1126/sciadv.abd1239

Article Information

vol. 7 no. 11

Online ISSN: 
  • Received for publication June 4, 2020
  • Accepted for publication January 25, 2021
  • .

Author Information

  1. Mark Simcoe1,2,
  2. Ana Valdes1,3,
  3. Fan Liu4,5,6,
  4. Nicholas A. Furlotte7,
  5. David M. Evans8,9,
  6. Gibran Hemani9,10,
  7. Susan M. Ring9,10,
  8. George Davey Smith9,10,
  9. David L. Duffy11,
  10. Gu Zhu11,
  11. Scott D. Gordon11,
  12. Sarah E. Medland11,
  13. Dragana Vuckovic12,13,14,
  14. Giorgia Girotto12,13,
  15. Cinzia Sala15,
  16. Eulalia Catamo12,
  17. Maria Pina Concas13,
  18. Marco Brumat12,
  19. Paolo Gasparini12,13,
  20. Daniela Toniolo15,
  21. Massimiliano Cocca13,
  22. Antonietta Robino13,
  23. Seyhan Yazar16,
  24. Alex Hewitt16,17,18,
  25. Wenting Wu19,
  26. Peter Kraft20,
  27. Christopher J. Hammond1,2,
  28. Yuan Shi21,
  29. Yan Chen4,5,6,
  30. Changqing Zeng5,
  31. Caroline C. W. Klaver22,23,24,
  32. Andre G. Uitterlinden23,25,
  33. M. Arfan Ikram23,
  34. Merel A. Hamer26,
  35. Cornelia M. van Duijn23,27,
  36. Tamar Nijsten26,
  37. Jiali Han19,
  38. David A. Mackey16,
  39. Nicholas G. Martin11,
  40. Ching-Yu Cheng21,28,
  41. the 23andMe Research Team,
  42. the International Visible Trait Genetics Consortium,
  43. David A. Hinds7,
  44. Timothy D. Spector1,*,
  45. Manfred Kayser4,*, and
  46. Pirro G. Hysi1,2,*,
  1. 1Department of Twins Research and Genetic Epidemiology, King’s College London, London, UK.
  2. 2Department of Ophthalmology, King’s College London, London, UK.
  3. 3Division of Rheumatology, Orthopaedics and Dermatology, School of Medicine, University of Nottingham, Nottingham, UK.
  4. 4Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  5. 5Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.
  6. 6University of Chinese Academy of Sciences, Beijing, China.
  7. 723andMe Inc., Sunnyvale, CA, USA.
  8. 8University of Queensland Diamantina Institute, University of Queensland, Brisbane, Queensland, Australia.
  9. 9MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.
  10. 10Population Health Sciences Bristol Medical School University of Bristol, Bristol, UK.
  11. 11QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.
  12. 12Department of Medical Sciences, University of Trieste, Trieste, Italy.
  13. 13Institute for Maternal and Child Health IRCCS “Burlo Garofolo”, Trieste, Italy.
  14. 14Epidemiology and Biostatistics Department, Faculty of Medicine, School of Public Health, Imperial College London, London, UK.
  15. 15Division of Genetics of Common Disorders, S. Raffaele Scientific Institute, Milan, Italy.
  16. 16Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.
  17. 17Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.
  18. 18School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.
  19. 19Department of Epidemiology, Fairbanks School of Public Health, Indiana University, and Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA.
  20. 20Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.
  21. 21Singapore Eye Research Institute, Singapore National Eye Center, Singapore.
  22. 22Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  23. 23Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  24. 24Department of Ophthalmology, Radboud University Medical Center, Nijmegen, Netherlands.
  25. 25Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  26. 26Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.
  27. 27Nuffield Department of Population Health, University of Oxford, Oxford, UK.
  28. 28Duke-NUS Medical School, Singapore.
  1. Corresponding author. Email: pirro.hysi{at}, m.kayser{at}
  • * These authors share senior authorship.


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