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]
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 Type:||Refereed Article|
|Research Division:||Medical and Health Sciences|
|Research Group:||Ophthalmology and Optometry|
|Objective Group:||Clinical Health (Organs, Diseases and Abnormal Conditions)|
|Objective Field:||Hearing, Vision, Speech and Their Disorders|
|Author:||Hewitt, AW (Dr Alex Hewitt)|
|Author:||Mackey, DA (Professor David Mackey)|
|Web of Science® Times Cited:||15|
|Deposited By:||Medicine (Discipline)|
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