Insights Into the Role of DNA Methylation and Gene Expression in Graves Orbitopathy
Authors' conclusion
We propose that, when exposed to an autoimmune environment, orbital fibroblasts undergo hypermethylation or hypomethylation of certain genes, involving CpG promoters, which results in differential gene expression, which may be responsible for functional alterations, in particular higher proliferation, and ultimately for the GO phenotype in vivo.
Study context
- Population
- Orbital fibroblasts from Graves orbitopathy (GO) and control patients, referral center
- Participants
- 6 vs 6
- Comparison
- GO vs control orbital fibroblasts, basal or challenged with M22 or cytokines
- GOn = 6
- Controln = 6reference
- Outcome
- DNA methylation, gene expression and proliferation of orbital fibroblasts
Methodological detailsreferral center, whole-genome methylome analysis
- Referral center
- Whole-genome methylome analysis
Main finding
As reported in the abstract
- DNA regions differently methylated in GO fibroblasts
- 19 869
- Genes encompassed by differently methylated regions
- 3957
- Gene families and subfamilies involved
- 119
- Protein groups involved
- 89
- Biological processes involved
- 402
- Pathways involved
- 7
- Differentially expressed genes concordantly hyper- or hypomethylated
- 3
Original publication
Insights Into the Role of DNA Methylation and Gene Expression in Graves Orbitopathy. J Clin Endocrinol Metab. Published 6 November 2022. doi:10. 1210/ clinem/ dgac645
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