Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2019-12

AUTHORS

Sangeetha Vishweswaraiah, Joanna Swierkowska, Uppala Ratnamala, Nitish K. Mishra, Chittibabu Guda, Shiva S. Chettiar, Kaid R. Johar, Malgorzata Mrugacz, Justyna A. Karolak, Marzena Gajecka, Uppala Radhakrishna

ABSTRACT

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

PAGES

4145

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  • Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/s41598-019-40299-x

    DOI

    http://dx.doi.org/10.1038/s41598-019-40299-x

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1112678054

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/30858441


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