DNA methylation landscape of ocular tissue relative to matched peripheral blood

Alex W. Hewitt, Vania Januar, Alexandra Sexton-Oates, Jihoon E. Joo, Maria Franchina, Jie Jin Wang, Helena Liang, Jamie E. Craig, Richard Saffery

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Abstract

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.

Original languageEnglish
Article number46330
JournalScientific Reports
Volume7
DOIs
Publication statusPublished - 13 Apr 2017

Fingerprint

DNA Methylation
Methylation
Epigenomics
Nerve Tissue
Choroid
DNA Fingerprinting
Eye Diseases
Retinal Pigment Epithelium
Optic Nerve
Principal Component Analysis
Cluster Analysis
Retina
Brain

Cite this

Hewitt, A. W., Januar, V., Sexton-Oates, A., Joo, J. E., Franchina, M., Wang, J. J., ... Saffery, R. (2017). DNA methylation landscape of ocular tissue relative to matched peripheral blood. Scientific Reports, 7, [46330]. https://doi.org/10.1038/srep46330
Hewitt, Alex W. ; Januar, Vania ; Sexton-Oates, Alexandra ; Joo, Jihoon E. ; Franchina, Maria ; Wang, Jie Jin ; Liang, Helena ; Craig, Jamie E. ; Saffery, Richard. / DNA methylation landscape of ocular tissue relative to matched peripheral blood. In: Scientific Reports. 2017 ; Vol. 7.
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Hewitt, AW, Januar, V, Sexton-Oates, A, Joo, JE, Franchina, M, Wang, JJ, Liang, H, Craig, JE & Saffery, R 2017, 'DNA methylation landscape of ocular tissue relative to matched peripheral blood' Scientific Reports, vol. 7, 46330. https://doi.org/10.1038/srep46330

DNA methylation landscape of ocular tissue relative to matched peripheral blood. / Hewitt, Alex W.; Januar, Vania; Sexton-Oates, Alexandra; Joo, Jihoon E.; Franchina, Maria; Wang, Jie Jin; Liang, Helena; Craig, Jamie E.; Saffery, Richard.

In: Scientific Reports, Vol. 7, 46330, 13.04.2017.

Research output: Contribution to journalArticle

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