A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25

Nature Genetics

Volumn 42, Issue 10, 2010, Pages 902-905

  Hysi, Pirro G ^a   Young, Terri L ^b   MacKey, David A ^c,d   Andrew, Toby ^a   Fernández Medarde, Alberto ^e   Solouki, Abbas M ^f   Hewitt, Alex W ^d   MacGregor, Stuart ^g   Vingerling, Johannes R ^f   Li, Yi Ju ^b   Ikram, M Kamran ^f   Fai, Lee Yiu ^h   Sham, Pak C ^h   Manyes, Lara ^e   Porteros, Angel ^e   Lopes, Margarida C ^a   Carbonaro, Francis ^a   Fahy, Samantha J ^a   Martin, Nicholas G ^g   Van Duijn, Cornelia M ^f   Spector, Timothy D ^a   Rahi, Jugnoo S ⁱ   Santos, Eugenio ^e   Klaver, Caroline C W ^f   Hammond, Christopher J ^a   more..

^a KING'S COLLEGE LONDON   (United Kingdom)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e CSIC   (Spain)

^f ERASMUS MEDICAL CENTER   (Netherlands)

^g QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^h UNIVERSITY OF HONG KONG   (Hong Kong)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ATROPINE; PROTEIN RASGRF1; RAS PROTEIN; TROPICAMIDE; UNCLASSIFIED DRUG; GUANINE NUCLEOTIDE EXCHANGE FACTOR; RASGRF1 PROTEIN, HUMAN; RASGRF1 PROTEIN, MOUSE;

ADULT; AGED; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BINDING SITE; CHROMOSOME 15Q; CHROMOSOME 15Q25; CLINICAL TRIAL; COHORT ANALYSIS; CONTROLLED STUDY; DRUG INHIBITION; EUROPE; FEMALE; GENE EXPRESSION; GENE LOCUS; GENE REPLICATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; HEREDITY; HUMAN; LENS; MAJOR CLINICAL STUDY; MALE; MEMORY CONSOLIDATION; MOUSE; MULTICENTER STUDY; MYOPIA; NERVE CELL; NONHUMAN; PRIORITY JOURNAL; REFRACTION ERROR; RETINA; SINGLE NUCLEOTIDE POLYMORPHISM; TRANSCRIPTION INITIATION; TWINS; UNITED KINGDOM; ANIMAL; CASE CONTROL STUDY; CHROMOSOME 15; COMPARATIVE STUDY; GENETIC PREDISPOSITION; GENETICS; GENOTYPE; HUMAN GENOME; KNOCKOUT MOUSE; MIDDLE AGED; PHYSIOLOGY;

ADULT; ANIMALS; CASE-CONTROL STUDIES; CHROMOSOMES, HUMAN, PAIR 15; COHORT STUDIES; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOTYPE; HUMANS; MALE; MICE; MICE, KNOCKOUT; MIDDLE AGED; MYOPIA; POLYMORPHISM, SINGLE NUCLEOTIDE; RAS-GRF1; TWIN STUDIES AS TOPIC;

MUS;

EID: 77957557992     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.664     Document Type: Article

References (28)

1. Vitale, S., Ellwein, L., Cotch, M.F., Ferris, F.L. III & Sperduto, R. Prevalence of refractive error in the United States, 1999-2004. Arch. Ophthalmol. 126, 1111-1119 (2008).
2. Morgan, I. & Rose, K. How genetic is school myopia? Prog. Retin. Eye Res. 24, 1-38 (2005).
3. Wu, H.M. et al. Does education explain ethnic differences in myopia prevalence? A population-based study of young adult males in Singapore. Optom. Vis. Sci. 78, 234-239 (2001).
4. Rein, D.B. et al. The economic burden of major adult visual disorders in the United States. Arch. Ophthalmol. 124, 1754-1760 (2006).
5. Bamashmus, M.A., Matlhaga, B. & Dutton, G.N. Causes of blindness and visual impairment in the West of Scotland. Eye 18, 257-261 (2004).
6. Evans, J.R., Fletcher, A.E. & Wormald, R.P. Causes of visual impairment in people aged 75 years and older in Britain: an add-on study to the MRC Trial of Assessment and Management of Older People in the Community. Br. J. Ophthalmol. 88, 365-370 (2004).
7. Resnikoff, S., Pascolini, D., Mariotti, S.P. & Pokharel, G.P. Global magnitude of visual impairment caused by uncorrected refractive errors in 2004. Bull. World Health Organ. 86, 63-70 (2008).
8. Buch, H. et al. Prevalence and causes of visual impairment and blindness among 9980 Scandinavian adults: the Copenhagen City Eye Study. Ophthalmology 111, 53-61 (2004).
9. Saw, S.M., Katz, J., Schein, O.D., Chew, S.J. & Chan, T.K. Epidemiology of myopia. Epidemiol. Rev. 18, 175-187 (1996).
10. Rose, K.A. et al. Outdoor activity reduces the prevalence of myopia in children. Ophthalmology 115, 1279-1285 (2008).
11. Lopes, M.C., Andrew, T., Carbonaro, F., Spector, T.D. & Hammond, C.J. Estimating heritability and shared environmental effects for refractive error in twin and family studies. Invest. Ophthalmol. Vis. Sci. 50, 126-131 (2009).
12. Vitale, S., Sperduto, R.D. & Ferris, F.L. III. Increased prevalence of myopia in the United States between 1971-1972 and 1999-2004. Arch. Ophthalmol. 127, 1632-1639 (2009).
13. Zippel, R. et al. Ras-GRF, the activator of Ras, is expressed preferentially in mature neurons of the central nervous system. Brain Res. Mol. Brain Res. 48, 140-144 (1997).
14. Raaijmakers, J.H. & Bos, J.L. Specificity in Ras and Rap signaling. J. Biol. Chem. 284, 10995-10999 (2009).
15. de la Puente, A. et al. Structural characterization of Rasgrf1 and a novel linked imprinted locus. Gene 291, 287-297 (2002).
16. Yoon, B.J. et al. Regulation of DNA methylation of Rasgrf1. Nat. Genet. 30, 92-96 (2002).
17. Mattingly, R.R. & Macara, I.G. Phosphorylation-dependent activation of the Ras-GRF/CDC25Mm exchange factor by muscarinic receptors and G-protein beta gamma subunits. Nature 382, 268-272 (1996).
18. Tonini, R. et al. Expression of Ras-GRF in the SK-N-BE neuroblastoma accelerates retinoic-acid-induced neuronal differentiation and increases the functional expression of the IRK1 potassium channel. Eur. J. Neurosci. 11, 959-966 (1999).
19. Tigges, M. et al. Effects of muscarinic cholinergic receptor antagonists on postnatal eye growth of rhesus monkeys. Optom. Vis. Sci. 76, 397-407 (1999).
20. Tong, L. et al. Atropine for the treatment of childhood myopia: effect on myopia progression after cessation of atropine. Ophthalmology 116, 572-579 (2009).
21. Mertz, J.R. & Wallman, J. Choroidal retinoic acid synthesis: a possible mediator between refractive error and compensatory eye growth. Exp. Eye Res. 70, 519-527 (2000).
22. Brambilla, R. et al. A role for the Ras signalling pathway in synaptic transmission and long-term memory. Nature 390, 281-286 (1997).
23. Fernández-Medarde, A. et al. RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations. J. Neurochem. 110, 641-652 (2009).
24. Schmucker, C. & Schaeffel, F. In vivo biometry in the mouse eye with low coherence interferometry. Vision Res. 44, 2445-2456 (2004). (Pubitemid 39055731)
25. Zhou, X. et al. The development of the refractive status and ocular growth in C57BL/6 mice. Invest. Ophthalmol. Vis. Sci. 49, 5208-5214 (2008).
26. Solouki, A. et al. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q14. Nat. Genet. advance online publication, doi:10.1038/ng.663 (12 September 2010).
27. Deans, M.R., Volgyi, B., Goodenough, D.A., Bloomfield, S.A. & Paul, D.L. Connexin36 is essential for transmission of rod-mediated visual signals in the mammalian retina. Neuron 36, 703-712 (2002).
28. Wallman, J. & Winawer, J. Homeostasis of eye growth and the question of myopia. Neuron 43, 447-468 (2004).