eCite Digital Repository

Identification of a candidate gene for astigmatism


Lopes, MC and Hysi, PG and Verhoeven, VJM and Macgregor, S and Hewitt, AW and Montgomery, GW and Cumberland, P and Vingerling, JR and Young, TL and van Duijn, CM and Oostra, B and Uitterlinden, AG and Rahi, JS and Mackey, DA and Klaver, CCW and Andrew, T and Hammond, CJ, Identification of a candidate gene for astigmatism, Investigative Ophthalmology and Visual Science (Iovs), 54, (2) pp. 1260-1267. ISSN 0146-0404 (2013) [Refereed Article]

DOI: doi:10.1167/iovs.12-10463


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.

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:Hewitt, AW (Professor Alex Hewitt)
UTAS Author:Mackey, DA (Professor David Mackey)
ID Code:95077
Year Published:2013
Web of Science® Times Cited:24
Deposited By:Medicine
Deposited On:2014-09-24
Last Modified:2014-09-24

Repository Staff Only: item control page