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

Author:

Simcoe Mark12ORCID,Valdes Ana13ORCID,Liu Fan456ORCID,Furlotte Nicholas A.7,Evans David M.89ORCID,Hemani Gibran910ORCID,Ring Susan M.910ORCID,Smith George Davey910ORCID,Duffy David L.11ORCID,Zhu Gu11ORCID,Gordon Scott D.11ORCID,Medland Sarah E.11ORCID,Vuckovic Dragana121314,Girotto Giorgia1213,Sala Cinzia15ORCID,Catamo Eulalia12ORCID,Concas Maria Pina13ORCID,Brumat Marco12,Gasparini Paolo1213,Toniolo Daniela15ORCID,Cocca Massimiliano13ORCID,Robino Antonietta13ORCID,Yazar Seyhan16,Hewitt Alex161718ORCID,Wu Wenting19ORCID,Kraft Peter20ORCID,Hammond Christopher J.12ORCID,Shi Yuan21,Chen Yan456,Zeng Changqing5ORCID,Klaver Caroline C. W.222324,Uitterlinden Andre G.2325,Ikram M. Arfan23,Hamer Merel A.26,van Duijn Cornelia M.2327ORCID,Nijsten Tamar26ORCID,Han Jiali19,Mackey David A.16ORCID,Martin Nicholas G.11ORCID,Cheng Ching-Yu2128,Hinds David A.7ORCID,Spector Timothy D.1ORCID,Kayser Manfred4,Hysi Pirro G.12ORCID, ,

Affiliation:

1. Department of Twins Research and Genetic Epidemiology, King’s College London, London, UK.

2. Department of Ophthalmology, King’s College London, London, UK.

3. Division of Rheumatology, Orthopaedics and Dermatology, School of Medicine, University of Nottingham, Nottingham, UK.

4. Department of Genetic Identification, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.

5. Key Laboratory of Genomic and Precision Medicine, Beijing Institute of Genomics, Chinese Academy of Sciences, Beijing, China.

6. University of Chinese Academy of Sciences, Beijing, China.

7. 23andMe Inc., Sunnyvale, CA, USA.

8. University of Queensland Diamantina Institute, University of Queensland, Brisbane, Queensland, Australia.

9. MRC Integrative Epidemiology Unit, University of Bristol, Bristol, UK.

10. Population Health Sciences Bristol Medical School University of Bristol, Bristol, UK.

11. QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.

12. Department of Medical Sciences, University of Trieste, Trieste, Italy.

13. Institute for Maternal and Child Health IRCCS “Burlo Garofolo”, Trieste, Italy.

14. Epidemiology and Biostatistics Department, Faculty of Medicine, School of Public Health, Imperial College London, London, UK.

15. Division of Genetics of Common Disorders, S. Raffaele Scientific Institute, Milan, Italy.

16. Centre for Ophthalmology and Visual Science, University of Western Australia, Lions Eye Institute, Perth, Australia.

17. Centre for Eye Research Australia, University of Melbourne, Department of Ophthalmology, Royal Victorian Eye and Ear Hospital, Melbourne, Australia.

18. School of Medicine, Menzies Research Institute Tasmania, University of Tasmania, Hobart, Australia.

19. Department of Epidemiology, Fairbanks School of Public Health, Indiana University, and Indiana University Melvin and Bren Simon Cancer Center, Indianapolis, IN, USA.

20. Program in Genetic Epidemiology and Statistical Genetics, Harvard T.H. Chan School of Public Health, Harvard University, Boston, MA, USA.

21. Singapore Eye Research Institute, Singapore National Eye Center, Singapore.

22. Department of Ophthalmology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.

23. Department of Epidemiology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.

24. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, Netherlands.

25. Department of Internal Medicine, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.

26. Department of Dermatology, Erasmus MC University Medical Center Rotterdam, Rotterdam, Netherlands.

27. Nuffield Department of Population Health, University of Oxford, Oxford, UK.

28. Duke-NUS Medical School, Singapore.

Abstract

A GWAS including 192,986 European and 1636 Asian participants identifies 50 novel discrete associations with eye color.

Funder

Fight for Sight

Compagnia di San Paolo

Wellcome

Seventh Framework Programme

Medical Research Council

National Institute for Health Research

Australian Research Council

The Ophthalmic Research Institute of Australia

The University of Western Australia

Fondazione Cariplo

Internationale Stichting Alzheimer Onderzoek

NIH

Australian national health and medical research council

Netherlands Organisation for Scientific Research

Alzheimer Association

Center of Medical Systems Biology

Hersenstichting Nederland

Channing Division of Network Medicine, Department of Medicine, Brigham and Women’s Hospital, Harvard Medical School

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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