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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.
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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.
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.
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.
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.
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