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Identification of a candidate gene for astigmatism.

Publication ,  Journal Article
Lopes, MC; Hysi, PG; Verhoeven, VJM; Macgregor, S; Hewitt, AW; Montgomery, GW; Cumberland, P; Vingerling, JR; Young, TL; van Duijn, CM ...
Published in: Invest Ophthalmol Vis Sci
February 1, 2013

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.

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Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

February 1, 2013

Volume

54

Issue

2

Start / End Page

1260 / 1267

Location

United States

Related Subject Headings

  • Young Adult
  • United Kingdom
  • Registries
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Ophthalmology & Optometry
  • Netherlands
  • Middle Aged
  • Male
  • Humans
 

Citation

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Lopes, M. C., Hysi, P. G., Verhoeven, V. J. M., Macgregor, S., Hewitt, A. W., Montgomery, G. W., … Hammond, C. J. (2013). Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci, 54(2), 1260–1267. https://doi.org/10.1167/iovs.12-10463
Lopes, Margarida C., Pirro G. Hysi, Virginie J. M. Verhoeven, Stuart Macgregor, Alex W. Hewitt, Grant W. Montgomery, Phillippa Cumberland, et al. “Identification of a candidate gene for astigmatism.Invest Ophthalmol Vis Sci 54, no. 2 (February 1, 2013): 1260–67. https://doi.org/10.1167/iovs.12-10463.
Lopes MC, Hysi PG, Verhoeven VJM, Macgregor S, Hewitt AW, Montgomery GW, et al. Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):1260–7.
Lopes, Margarida C., et al. “Identification of a candidate gene for astigmatism.Invest Ophthalmol Vis Sci, vol. 54, no. 2, Feb. 2013, pp. 1260–67. Pubmed, doi:10.1167/iovs.12-10463.
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. Identification of a candidate gene for astigmatism. Invest Ophthalmol Vis Sci. 2013 Feb 1;54(2):1260–1267.

Published In

Invest Ophthalmol Vis Sci

DOI

EISSN

1552-5783

Publication Date

February 1, 2013

Volume

54

Issue

2

Start / End Page

1260 / 1267

Location

United States

Related Subject Headings

  • Young Adult
  • United Kingdom
  • Registries
  • Polymorphism, Single Nucleotide
  • Phenotype
  • Ophthalmology & Optometry
  • Netherlands
  • Middle Aged
  • Male
  • Humans