Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia.

摘要: Myopia, commonly referred to as nearsightedness, is one of the most common causes visual disability throughout world. It affects more people worldwide than any other chronic impairment condition. Although prevalence varies among various ethnic groups, incidence myopia increasing in all populations across globe. Thus, it considered a pressing public health problem. Both genetics and environment play role development myopia. To elucidate epigenetic mechanism(s) underlying pathophysiology high-myopia, we conducted methylation profiling 18 cases matched controls (aged 4–12 years), using Illumina MethylationEPIC BeadChips array. The degree was variable subjects, ranging from −6 −15D. We identified 1541 hypermethylated CpGs, representing 1745 genes (2.0-fold or higher) (false discovery rate (FDR) p ≤ 0.05), multiple CpGs were p < 5 × 10−8 with receiver operating characteristic area under curve (ROC-AUC) ≥ 0.75 high-myopia subjects compared controls. Among these, 48 had excellent correlation (AUC ≥ 0.90). Herein, present first genome-wide DNA analysis unique cohort, showing extensive discrete changes relative hold significant potential targets for novel therapeutic intervention either alone, combination.