Abstract
Purpose:
Previous genomic studies on association of genes and refractive errors focused on high myopia. In this study, we concentrate on identifying single nucleotide polymorphisms (SNPs) genotyped in Twin Eye Study which may be associated with simple myopia and hyperopia.
Methods:
Genotype and phenotype data of Twin Study of Myopia and Glaucoma were downloaded from NIH website. 2995 subjects’ genome data and 2992 subjects’ phenotype data were matched and combined. We analyze data of single individuals without cataract from 984 families (aged 43.46 +/- 17.32). Simple myopia is defined as the average spherical equivalent (SER) of two eyes < -0.5D while hyperopia refers the average SER>1D. Trend test and logistic regression (LR) for association, adjusting for age effect, were conducted in the first 100K SNPs.
Results:
Among the 984 subjects, there were 364 simple myopes and 171 hyperopes. Two SNPs (rsrs11107851, rs10230686) were found to be significantly associated with simple myopia (p-values in both trend test and LR <0.0001) while 7 SNPs (rs11700084, rs11063447, rs11063456, rs10832757, rs10766383, rs10517553, rs10010445) were showed significant association with hyperopia with the same cutoff criterion. However, only 2 SNPs (rs10139934, rs10060247)) were significantly associated with both simple myopia and hyperopia (p-values in LR for both simple myopia and hyperopia<0.001).
Conclusions:
The SNPs rs10139934 and rs10060427 were found to be significantly associated with both simple myopia and hyperopia. Further confirmation using different cohorts for the association is needed before we can study and reveal the roles the related genes play in myopia development.
Keywords: 539 genetics •
547 hyperopia •
605 myopia