eCite Digital Repository

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


Hysi, PG and Young, TL and Mackey, DA and Andrew, T and Fernandez-Medarde, A and Solouki, AM and Hewitt, AW and MacGregor, S and Vingerling, JR and Li, Y-J and Ikram, MK and Fai, LY and Sham, PC and Manyes, L and Porteros, A and Lopes, MC and Carbonaro, F and Fahy, SJ and Martin, NG and Van Dujin, CM and Spector, TD and Rahi, JS and Santos, E and Klaver, CCW and Hammond, CJ, A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25, Nature Genetics, 42, (10) pp. 902-905. ISSN 1061-4036 (2010) [Refereed Article]

DOI: doi:10.1038/ng.664


Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eyeĝ2s 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=7.91נ10-8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P=2.07נ10۟-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.

Item Details

Item Type:Refereed Article
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Mackey, DA (Professor David Mackey)
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:95189
Year Published:2010
Web of Science® Times Cited:162
Deposited By:Medicine
Deposited On:2014-09-26
Last Modified:2014-10-09

Repository Staff Only: item control page