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DNA methylation landscape of ocular tissue relative to matched peripheral blood


Hewitt, AW and Januar, V and Sexton-Oates, A and Joo, JE and Franchina, M and Wang, JJ and Liang, H and Craig, JE and Saffery, R, DNA methylation landscape of ocular tissue relative to matched peripheral blood, Scientific Reports, 7 Article 46330. ISSN 2045-2322 (2017) [Refereed Article]


Copyright Statement

The Author(s) 2017. Licensed under Creative Commons Attribution 4.0 International (CC BY 4.0)

DOI: doi:10.1038/srep46330


Epigenetic variation is implicated in a range of non-communicable diseases, including those of the eye. However, investigating the role of epigenetic variation in central tissues, such as eye or brain, remains problematic and peripheral tissues are often used as surrogates. In this study, matched human blood and eye tissue (n=8) were obtained post-mortem and DNA methylation profiling performed on blood, neurosensory retina, retinal pigment epithelium (RPE)/choroid and optic nerve tissue using the Illumina Infinium HumanMethylation450 platform. Unsupervised clustering and principal components analysis revealed tissue of origin as the main driver of methylation variation. Despite this, there was a strong correlation of methylation profiles between tissues with >255,000 CpG sites found to have similar methylation levels. An additional ∼16,000 show similarity across ocular tissues only. A small proportion of probes showing inter-individual variation in blood co-varied with eye tissues within individuals, however much of this variation may be genetically driven. An improved understanding of the epigenetic landscape of the eye will have important implications for understanding eye disease. Despite a generally high correlation irrespective of origin, tissue type is the major driver of methylation variation, with only limited covariation between blood and any specific ocular tissue.

Item Details

Item Type:Refereed Article
Keywords:DNA methylation, predictive markers
Research Division:Biomedical and Clinical Sciences
Research Group:Ophthalmology and optometry
Research Field:Ophthalmology
Objective Division:Health
Objective Group:Clinical health
Objective Field:Clinical health not elsewhere classified
UTAS Author:Hewitt, AW (Professor Alex Hewitt)
ID Code:116225
Year Published:2017
Web of Science® Times Cited:12
Deposited By:Menzies Institute for Medical Research
Deposited On:2017-05-03
Last Modified:2022-08-26
Downloads:87 View Download Statistics

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