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

Hysi, Pirro G., Young, Terri L., Mackey, David A., Andrew, Toby, Fernandez-Medarde, Alberto, Solouki, Abbas M., Hewitt, Alex W., Macgregor, Stuart, Vingerling, Johannes R., Li, Yi-Ju, Ikram, M. Kamran, Fai, Lee Yiu, Sham, Pak C., Manyes, Lara, Porteros, Angel, Lopes, Margarida C., Carbonaro, Francis, Fahy, Samantha J., Martin, Nicholas G., van Diujn, Cornelia M., Spector, Timothy D., Rahi, Jugnoo S., Santos, Eugenio, Klaver, Caroline C. W. and Hammond, Christopher J. (2010) A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nature Genetics, 42 10: 902-905. doi:10.1038/ng.664

Attached Files (Some files may be inaccessible until you login with your UQ eSpace credentials)
Name Description MIMEType Size Downloads
UQ239433_authaffil_staffdata_Martin.pdf HERDC evidence - not publicly available application/pdf 491.94KB 0

Author Hysi, Pirro G.
Young, Terri L.
Mackey, David A.
Andrew, Toby
Fernandez-Medarde, Alberto
Solouki, Abbas M.
Hewitt, Alex W.
Macgregor, Stuart
Vingerling, Johannes R.
Li, Yi-Ju
Ikram, M. Kamran
Fai, Lee Yiu
Sham, Pak C.
Manyes, Lara
Porteros, Angel
Lopes, Margarida C.
Carbonaro, Francis
Fahy, Samantha J.
Martin, Nicholas G.
van Diujn, Cornelia M.
Spector, Timothy D.
Rahi, Jugnoo S.
Santos, Eugenio
Klaver, Caroline C. W.
Hammond, Christopher J.
Title A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
Journal name Nature Genetics   Check publisher's open access policy
ISSN 1546-1718
1061-4036
Publication date 2010-10-01
Year available 2010
Sub-type Article (original research)
DOI 10.1038/ng.664
Open Access Status Not yet assessed
Volume 42
Issue 10
Start page 902
End page 905
Total pages 4
Place of publication New York, NY, U.S.A.
Publisher Nature Publishing Group
Language eng
Abstract Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye's ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 x 10(-8)). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 x 10(-9)). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1(-/-) mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.
Formatted abstract
Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye′s ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 × 10−8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 10−9). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1−/− mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.
© 2010 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.
Keyword Vision impairment
Eye growth
Blindness
Rasgrf1
Q-Index Code C1
Q-Index Status Confirmed Code
Grant ID F2- 2008-201865
HEALTH-F4-2007-201413
QLG2-CT-2002-01254
1RO1EY018246
SA044A08
350415
NWO 480-05-003
FIS PS09/01979
Institutional Status UQ
Additional Notes Published under Letter.

Document type: Journal Article
Sub-type: Article (original research)
Collections: Official 2011 Collection
School of Medicine Publications
 
Versions
Version Filter Type
Citation counts: TR Web of Science Citation Count  Cited 123 times in Thomson Reuters Web of Science Article | Citations
Scopus Citation Count Cited 134 times in Scopus Article | Citations
Google Scholar Search Google Scholar
Created: Wed, 30 Mar 2011, 01:10:24 EST by Debbie Banks on behalf of School of Medicine