Abstract
Sarcoidosis is an orphan inflammatory disorder that can virtually affect any organ or system in the body, although the lungs and lymph nodes are most frequently involved. Sarcoidosis is believed to derive from an interaction between environmental and genetic agents. Many studies emphasize a strong association between certain human leukocyte antigen (HLA) alleles and sarcoidosis susceptibility. Several new insights have allowed the further evaluation of other candidate genes with a potential function in the immunopathogenesis of sarcoidosis. This review summarizes recent advances in the identification of novel molecular markers that may play a role in different stages of disease, such as the acute phase of inflammation, granuloma formation and fibrosis. Furthermore, this article elucidates the role of both TGF-b/Smad and (HIF)-1a-VEGF-ING-4 signaling pathways in the development of sarcoidosis. The potential epigenetic regulation of the processes occurring in sarcoidosis by miRNA is also discussed.
Highlights
Sarcoidosis is a chronic, multisystem, inflammatory disease of unknown etiology
The diagnosis needs to be documented by endobronchial ultrasonography or esophageal ultrasonography transbronchial needle aspiration (EBUS/EUS-TBNA), bronchial mucosal biopsy, transbronchial peripheral lung biopsy (TBLB), mediastinoscopy, or extrathoracic biopsy
Up-regulation of TGF-b1 and SMAD3 genes in sarcoidosis patients presenting signs known to be related to worse prognosis confirmed that elements of this pathway may be critical for the development of unfavorable outcome in sarcoidosis [95]
Summary
Sarcoidosis is a chronic, multisystem, inflammatory disease of unknown etiology. Patients are commonly young or in middle adulthood (20–39 years) and can be either male or female. Autoimmune theory is based on the observation that macrophages can present antigens and release cytokines (IL-2, IL-4, IL-6, IL-10, IL-12, TNF-a, INF-g, TGF-b) [38] involved in polarization of CD4+ T-cells to Th1 in the blood of patients with sarcoidosis. Higher serum levels of TGF-b1 in patients with pulmonary sarcoidosis may be associated with the progression of the disease, as well as with an increased risk of lung fibrosis [84].
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