Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration

Verity Oliver, Maria Franchina, Andrew Jaffe, Kari Branham, Mohammad Othman, John Heckenlively, Anand Swaroop, Betsy Campochiaro, Brendan Jt Vote, Jamie Craig, Richard Saffery, David Mackey, Jiang Qian, D Zack, Alex Hewitt, Shannath Merbs

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    28 Citations (Scopus)

    Abstract

    Age-related macular degeneration (AMD) is a leading cause of visual impairment worldwide. Aberrant DNA methylation within the promoter of IL17RC in peripheral blood mononuclear cells has recently been reported in AMD. To validate this association, we examined DNA methylation of the IL17RC promoter in peripheral blood. First, we used Illumina Human Methylation450 Bead Arrays, a widely accepted platform for measuring global DNA methylation. Second, methylation status at multiple sites within the IL17RC promoter was determined by bisulfite pyrosequencing in two cohorts. Third, a methylation-sensitive quantitative PCR-based assay was performed on a subset of samples. In contrast to previous findings, we did not find evidence of differential methylation between AMD cases and age-matched controls. We conclude that hypomethylation within the IL17RC gene promoter in peripheral blood is not suitable for use as a clinical biomarker of AMD. This study highlights the need for considerable replication of epigenetic association studies prior to clinical application.

    Original languageEnglish
    Pages (from-to)1527-1535
    Number of pages9
    JournalCell Reports
    Volume5
    Issue number6
    DOIs
    Publication statusPublished - 2013

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  • Cite this

    Oliver, V., Franchina, M., Jaffe, A., Branham, K., Othman, M., Heckenlively, J., Swaroop, A., Campochiaro, B., Vote, B. J., Craig, J., Saffery, R., Mackey, D., Qian, J., Zack, D., Hewitt, A., & Merbs, S. (2013). Hypomethylation of the IL17RC Promoter in Peripheral Blood Leukocytes Is Not A Hallmark of Age-Related Macular Degeneration. Cell Reports, 5(6), 1527-1535. https://doi.org/10.1016/j.celrep.2013.11.042