Cookies on this website
We use cookies to ensure that we give you the best experience on our website. If you click 'Continue' we'll assume that you are happy to receive all cookies and you won't see this message again. Click 'Find out more' for information on how to change your cookie settings.

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.

Original publication

DOI

10.1038/ng.664

Type

Journal article

Journal

Nat Genet

Publication Date

10/2010

Volume

42

Pages

902 - 905

Keywords

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, Twin Studies as Topic, ras-GRF1