Identification of a candidate gene for astigmatism.


Journal Article

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

Full Text

Duke Authors

Cited Authors

  • Lopes, MC; Hysi, PG; Verhoeven, VJM; Macgregor, S; Hewitt, AW; Montgomery, GW; Cumberland, P; Vingerling, JR; Young, TL; van Duijn, CM; Oostra, B; Uitterlinden, AG; Rahi, JS; Mackey, DA; Klaver, CCW; Andrew, T; Hammond, CJ

Published Date

  • February 2013

Published In

Volume / Issue

  • 54 / 2

Start / End Page

  • 1260 - 1267

PubMed ID

  • 23322567

Pubmed Central ID

  • 23322567

Electronic International Standard Serial Number (EISSN)

  • 1552-5783

International Standard Serial Number (ISSN)

  • 0146-0404

Digital Object Identifier (DOI)

  • 10.1167/iovs.12-10463


  • eng