Genetic Profiling of Orbital Fibroblasts from Patients with Graves’ Orbitopathy

Abstract Context Graves’ orbitopathy (GO) is an autoimmune disease that persists when immunosuppression achieved. Orbital fibroblasts from GO patients display peculiar phenotypes even if not exposed to autoimmunity, possibly reflecting genetic or epigenetic mechanisms, which we investigated here. Objective We aimed explore potential differences using primary cultures of orbital and control patients. Methods Cell proliferation, hyaluronic acid (HA) secretion, HA synthases (HAS) were measured. Next-generation sequencing gene expression analysis the whole genome performed, as well real-time-PCR selected genes global DNA methylation assay on 6 with a referral center. Results proliferation was higher in than fibroblasts. Likewise, cell medium HAS-1 HAS-2 did differ between fibroblasts, whereas HAS-3 more expressed No relevant variants detected by whole-genome sequencing. However, 58 found be differentially compared RT-PCR confirmed findings 10 genes. postulated differential related mechanism, diverse methylation, therefore In support our hypothesis, significantly Conclusions propose that, following insult, elicits sustains maintenance GO.