Identification of a candidate gene for astigmatism.

Published online

Journal Article

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.

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 1, 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

Digital Object Identifier (DOI)

  • 10.1167/iovs.12-10463


  • eng

Conference Location

  • United States