Identification of a candidate gene for astigmatism.
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.
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
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