Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error

Author:

Stambolian Dwight1,Wojciechowski Robert23,Oexle Konrad4,Pirastu Mario5,Li Xiaohui6,Raffel Leslie J.6,Cotch Mary Frances7,Chew Emily Y.7,Klein Barbara8,Klein Ronald8,Wong Tien Y.910,Simpson Claire L.3,Klaver Caroline C.W.11,van Duijn Cornelia M.12,Verhoeven Virginie J.M.11,Baird Paul N.13,Vitart Veronique14,Paterson Andrew D.15,Mitchell Paul16,Saw Seang Mei17,Fossarello Maurizio18,Kazmierkiewicz Krista1,Murgia Federico5,Portas Laura5,Schache Maria13,Richardson Andrea13,Xie Jing13,Wang Jie Jin1316,Rochtchina Elena16,Viswanathan Ananth C.1920,Hayward Caroline14,Wright Alan F.14,Polašek Ozren21,Campbell Harry22,Rudan Igor22,Oostra Ben A.23,Uitterlinden André G.1224,Hofman Albert12,Rivadeneira Fernando1224,Amin Najaf12,Karssen Lennart C.12,Vingerling Johannes R.11,Hosseini S.M.15,Döring Angela25,Bettecken Thomas26,Vatavuk Zoran27,Gieger Christian25,Wichmann H.-Erich25,Wilson James F.22,Fleck Brian28,Foster Paul J.1920,Topouzis Fotis29,McGuffin Peter30,Sim Xueling31,Inouye Michael32,Holliday Elizabeth G.3334,Attia John3334,Scott Rodney J.33343536,Rotter Jerome I.6,Meitinger Thomas426,Bailey-Wilson Joan E.3,

Affiliation:

1. Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA, USA,

2. Department of Epidemiology, Johns Hopkins Bloomberg School of Public Health,

3. National Human Genome Research Institute,

4. Institute of Human Genetics, Technische Universität München, Munich, Germany,

5. Institute of Population Genetics, National Research Council of Italy, Sassari, Italy,

6. Medical Genetics Institute, Cedars-Sinai Medical Center, Los Angeles, CA, USA,

7. Division of Epidemiology and Clinical Applications, National Eye Institute, National Institutes of Health, Bethesda, MD, USA,

8. Department of Ophthalmology and Visual Sciences, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA,

9. Singapore Eye Research Institute, National University of Singapore, Singapore,

10. Centre for Eye Research Australia, University of Melbourne, Victoria, Australia,

11. Department of Ophthalmology and Epidemiology and

12. Department of Epidemiology, Erasmus Medical Center, Rotterdam, The Netherlands,

13. Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, Melbourne, Australia,

14. MRC Human Genetics Unit, IGMM and

15. Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada,

16. Centre for Vision Research, Department of Ophthalmology and Westmead Millennium Institute, University of Sydney, NSW, Australia,

17. Department of Epidemiology and Public Health, Yong Loo Lin School of Medicine and

18. Dipartimento di Scienze Chirurgiche, Clinica Oculistica Universita` degli studi di Cagliari, Cagliari, Italy,

19. NIHR Biomedical Research Centre, Moorfields Eye Hospital NHS Foundation Trust and

20. UCL Institute of Ophthalmology, London EC1V 2PD, UK,

21. Croatian Centre for Global Health, University of Split Medical School, Split, Croatia,

22. Centre for Population Health Sciences, University of Edinburgh, Edinburgh, UK,

23. Department of Clinical Genetics and

24. Department of Internal Medicine, Erasmus Medical Center, Rotterdam, The Netherlands,

25. Institute of Epidemiology I and

26. Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany,

27. Dept of Ophthalmology, Hospital ‘Sestre Milosrdnice’, Zagreb, Croatia,

28. Princess Alexandra Eye Pavilion, Edinburgh, UK,

29. Department of Ophthalmology, School of Medicine, Aristotle University of Thessaloniki, AHEPA Hospital, Thessaloniki, Greece,

30. MRC Social Genetic and Developmental Psychiatry Research Centre, Institute of Psychiatry, King's College, London, UK,

31. Centre for Molecular Epidemiology, National University of Singapore, Singapore, Singapore,

32. Medical Systems Biology, Department of Pathology and Department of Microbiology & Immunology, The University of Melbourne, Parkville, Victoria 3010, Australia,

33. School of Medicine and Public Health, University of Newcastle, Newcastle, Australia,

34. Hunter Medical Research Institute, Newcastle, Australia,

35. The Centre for Information Based Medicine and the School of Biomedical Sciences and Pharmacy University of Newcastle, Newcastle, Australia

36. The Division of Genetics, Hunter Area Pathology Service, John Hunter Hospital, Newcastle, Australia

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Reference57 articles.

1. VISION 2020: the right to sight: a global initiative to eliminate avoidable blindness;Pizzarello;Arch. Ophthalmol.,2004

2. Prevalence of myopia in Taiwanese schoolchildren: 1983 to 2000;Lin;Ann. Acad. Med. Singapore.,2004

3. Refractive error and visual impairment in urban children in southern china;He;Invest. Ophthalmol. Vis. Sci.,2004

4. Global vision impairment due to uncorrected presbyopia;Holden;Arch. Ophthalmol.,2008

5. Outdoor activity and myopia in Singapore teenage children;Dirani;Br. J. Ophthalmol.,2009

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