Format

Send to

Choose Destination
Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):1260-7. doi: 10.1167/iovs.12-10463.

Identification of a candidate gene for astigmatism.

Author information

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

Abstract

PURPOSE:

Astigmatism is a common refractive error that reduces vision, where the curvature and refractive power of the cornea in one meridian are less than those of the perpendicular axis. It is a complex trait likely to be influenced by both genetic and environmental factors. Twin studies of astigmatism have found approximately 60% of phenotypic variance is explained by genetic factors. This study aimed to identify susceptibility loci for astigmatism.

METHODS:

We performed a meta-analysis of seven genome-wide association studies that included 22,100 individuals of European descent, where astigmatism was defined as the number of diopters of cylinder prescription, using fixed effect inverse variance-weighted methods.

RESULTS:

A susceptibility locus was identified with lead single nucleotide polymorphism rs3771395 on chromosome 2p13.3 (meta-analysis, P = 1.97 × 10(-7)) in the VAX2 gene. VAX2 plays an important role in the development of the dorsoventral axis of the eye. Animal studies have shown a gradient in astigmatism along the vertical plane, with corresponding changes in refraction, particularly in the ventral field.

CONCLUSIONS:

This finding advances the understanding of refractive error, and provides new potential pathways to be evaluated with regard to the development of astigmatism.

PMID:
23322567
PMCID:
PMC3576051
DOI:
10.1167/iovs.12-10463
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Silverchair Information Systems Icon for PubMed Central
Loading ...
Support Center