Format

Send to:

Choose Destination
See comment in PubMed Commons below
Nat Genet. 2010 Oct;42(10):902-5. doi: 10.1038/ng.664. Epub 2010 Sep 12.

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

Author information

  • 1Department of Twin Research and Genetic Epidemiology, King's College London, St. Thomas' Hospital, London, UK.

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.

PMID:
20835236
[PubMed - indexed for MEDLINE]
PMCID:
PMC4115148
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Nature Publishing Group Icon for PubMed Central
    Loading ...
    Write to the Help Desk