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Milly S Tedja, Mohsen Ghanbari, Magda A. Meester, Abbas Dehghan, Caroline C W Klaver; MicroRNAs: regulators in the development of refractive errors and myopia. Invest. Ophthalmol. Vis. Sci. 2016;57(12):4791.
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© ARVO (1962-2015); The Authors (2016-present)
MicroRNAs (miRNAs) are key post-translational regulators of gene expression, and could play a role in the development of refractive error (RE) and myopia. We investigated whether myopia-related SNPs resided in miRNAs sequences and/or their binding sites.
Genome wide significant SNPs (p<10-8) were identified from the GWAS meta-analysis on RE from the international CREAM Consortium and 23andMe (167,991 participants) on 1000G imputed data. We investigated whether the SNPs were located in miRNAs or their binding sites using online databases (PolymiRTS and Patrocles). In addition, we explored expression of quantitative trait loci (eQTL) SNPs in whole-blood using the GeneNetwork database to find evidence for a functional effect of the associated SNPs.
29 RE-associated SNPs were located in miRNA binding sites and none were located in miRNA sequences. The cis-eQTL analysis proved a cis-effect on their host gene in 8 SNPs, which increased the probability of true miRNA binding sites. In particular, one of these SNPs created a binding site for a highly conserved miRNA known to be involved in eye-diseases.
Our study provides evidence that post-translational regulation of genes may determine RE and myopia. If functionally validated, these miRNAs are potential targets for intervention.
This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.
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