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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.

Original publication

DOI

10.1167/iovs.12-10463

Type

Journal article

Journal

Invest Ophthalmol Vis Sci

Publication Date

01/02/2013

Volume

54

Pages

1260 - 1267

Keywords

Adolescent, Adult, Aged, Aged, 80 and over, Astigmatism, Australia, Chromosomes, Human, Pair 2, Environment, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Homeodomain Proteins, Humans, Male, Middle Aged, Netherlands, Phenotype, Polymorphism, Single Nucleotide, Registries, United Kingdom, Young Adult