The role of epigenetic variation in the pathogenesis of systemic lupus erythematosus

Hughes, Travis; Sawalha, Amr H

doi:10.1186/ar3484

Arthritis Research & Therapy

Table 1 Epigenetic perturbations observed in lupus T cells

From: The role of epigenetic variation in the pathogenesis of systemic lupus erythematosus

Gene/pathway	Epigenetic defect	Cell type	Consequence	Reference
ERK pathway	Defective signaling	Human and murine T cells	Reduced DNMT1 expression and reduced T cell DNA methylation	[23, 32]
PRF1	Hypomethylation	CD4+ T cells	Increased perforin expression	[52, 53]
ITGAL	Hypomethylation	CD4+ T cells	Increased CD11a expression	[40, 41]
CD40LG	Hypomethylation	CD4+ T cells	B-cell hyperactivation	[36]
KIR2DL4 (KIR)	Hypomethylation	CD4+ T cells	Increased KIR expression	[55, 56]
TNFSF7	Hypomethylation	CD4+ T cells	Increased CD70 expression	[43–45]
GADD45A	Overexpression	CD4+ T cells	Decreased DNA methylation	[51]
Folate biosynthesis	Hypermethylation	CD4+ T cells	Impaired DNA methylation?	[62]
RUNX3	Hypermethylation	CD4+ T cells	Impaired T cell proliferation?	[62]
CD9	Hypomethylation	CD4+ T cells	Increased T cell activation?	[62]
MMP9	Hypomethylation	CD4+ T cells	?	[62]
PDGFRA	Hypomethylation	CD4+ T cells	?	[62]
SOX5	Hypomethylation	CD4+ T cells	?	[62]
miR-126	Overexpression	CD4+ T cells	Downregulation of DNMT1	[79]
miR-146	Underexpression	CD4+ T cells; murine T splenocytes	Increased type I IFN	[66, 68]
miR-17-92	Overexpression	Murine T splenocytes	Lymphocyte stability	[68]
miR-155	Overexpression	CD4+ T cells; CD4+ CD25+ T cells	Reduced Treg cell stability	[90]
miR-101a	Overexpression	Murine T splenocytes	Reduced EZH2?	[68]
miR-31	Overexpression	Regulatory T cells; murine T splenocytes	Repression of FOXP3	[62, 87]
miR-21	Overexpression	CD4+ T cells	Targets ERK pathway leading to lower DNMT1	[78]
miR-125a	Underexpression	CD4+ T cells	Targets KLF13 leading to increased RANTES	[67]
miR-148a	Overexpression	CD4+ T cells	Downregulates DNMT1	[78]
RFX1	Underexpression	CD4+ T cells	Reduced H3K9me3 and DNA methylation	[47, 48]

CD40LG, CD40 ligand; DNMT, DNA methyltransferase; ERK, extracellular signal-regulated kinase; GADD45A, growth arrest and DNA-damage-inducible 45 alpha; H3K9me3, histone 3 lysine 9 trimethylation; KIR, killer immunoglobulin-like receptor; Treg, regulatory T cell.

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ISSN: 1478-6362

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