April 2014
Volume 55, Issue 13
Free
ARVO Annual Meeting Abstract  |   April 2014
Genome-wide analysis of newly developed quantitative phenotypes of astigmatism
Author Affiliations & Notes
  • Rui Chen
    Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN
  • Sungeun Kim
    Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN
  • Heng Huang
    Department of Computer Science and Engineering, Univnrsity of Texas at Arlington, Arlington, TX
  • Li Shen
    Department of Radiology and Imaging Sciences, Indiana University School of Medicine, Indianapolis, IN
  • Jingyun Wang
    Eugene and Marilyn Glick Eye Institute, Department of Ophthalmology, Indiana University School of Medicine, Indianapolis, IN
  • Footnotes
    Commercial Relationships Rui Chen, None; Sungeun Kim, None; Heng Huang, None; Li Shen, None; Jingyun Wang, None
  • Footnotes
    Support None
Investigative Ophthalmology & Visual Science April 2014, Vol.55, 2733. doi:https://doi.org/
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    • Get Citation

      Rui Chen, Sungeun Kim, Heng Huang, Li Shen, Jingyun Wang; Genome-wide analysis of newly developed quantitative phenotypes of astigmatism. Invest. Ophthalmol. Vis. Sci. 2014;55(13):2733. doi: https://doi.org/.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose: Astigmatism is traditionally described with both axis information and magnitude. Although genetic association studies have been performed for the magnitude of astigmatism1, the genetic effects on the axis of astigmatism are largely unexplored. By adopting power vectors as the newly-developed quantitative traits, this study aims to investigate the influence of genetic variation in astigmatism.

Methods: Two cohorts (UK and Australia), downloaded from the WGATSMGRF database in dbGaP, were analyzed. The UK cohort included 2269 individuals; the Australian cohort included 659 individuals. Astigmatism was transformed into power vectors J0 (with-the-rule astigmatism) and J45 (oblique astigmatism)2. Using PLINK3, quality controlled SNP genotypes were tested for family-based association to astigmatism QTs, where permutation (k=100,000) was used to correct for family structure. SNPs with p<10-5 were considered significant.

Results: Two SNPs (rs12144613, rs17131515) proximal to the HSP90B3P gene were associated with J0 (p<10-5), and they were very close (<24KB) to two prior findings (rs1192404, rs1192415). SNPs from two genomic regions were identified in both UK and Australian cohorts. Multiple SNPs associated with astigamatism were identified, including a replicated finding proximal to the HSP90B3P gene, and two novel findings proximal to the IRX gene and DOCK9 gene, respectively. The HSP90B3P gene has been associated with the optic disc. The roles of the two newly identified variants in both cohorts warrant further investigation.

Conclusions: These preliminary results demonstrate the potential of the newly developed quantitative phenotypes for confirming or identifying genetic variations associated with astigmatism that may play a role in pathophysiology.

Keywords: 677 refractive error development • 428 astigmatism • 539 genetics  
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