Abstract
BackgroundBullous pemphigoid (BP) is a senile chronic autoimmune bullous skin disease with a high relapse rate, which significantly impairs patients’ quality of life and contributes to disease mortality. This observational case-control study explores the gene polymorphisms of cytokines and their clinical significance in Chinese patients with BP.MethodsIL-1α (rs1800587), IL-1β (rs16944, rs1143627, rs1143634), IL-4 (rs2243250), IL-6 (rs1800795), IL-10 (rs1800896, rs1800871, rs1800872), IL-13 (rs1800925, rs20541), TNF-α (rs1799964, rs1800630, rs1799724, rs361525), IFN-γ (rs1799964, rs1800630, rs361525, rs1800629, rs4248160, rs1800750), and TGF-β1 (rs2317130, rs1800469, rs4803457) genes were genotyped in the healthy controls and BP patients, respectively. Expression of these cytokines in serum was measured. Medical profiles of patients, including baseline characteristics and prognosis, were statistically analyzed.ResultsWe found that IL-1 β and IL-13 concentrations were higher in the BP patients’ sera compared to those in the controls. For IL-13, significant differences were found in the nucleotide ratio/genotype/haploid frequency/haplotype, respectively. IL-13 (rs20541, rs1800925) is related to gender, and the IL-13 genotype was significantly associated with recurrence.ConclusionsBP is associated with IL-13 gene polymorphism and IL-13 concentration is elevated in blood circulation in patients with BP. Our results support that IL-13 is relevant in the pathogenesis of BP, suggesting that IL-13 could potentially represent a promising target for BP therapy and a prognostic marker.
Highlights
Bullous pemphigoid (BP) is a chronic autoimmune skin disease with severe pruritus most commonly identified in the elderly
There was no significant difference between patients and controls regarding age and gender in SNP and serum level analysis (P > 0.05)
Gene variations of IL-1a, IL-1b, IL-4, IL-6, IL-10, IL-13, TNF-a, IFN-g, and TGF-b1 were analyzed in BP patients compared to healthy controls to clarify whether these polymorphisms are associated with BP (Supplementary Table 1)
Summary
Bullous pemphigoid (BP) is a chronic autoimmune skin disease with severe pruritus most commonly identified in the elderly. A body of accumulating evidence has supported that the BP autoreactive antibodies mediated a cascade of inflammatory responses that could play a critical role in BP disease pathogenesis These include activation of complements, aggregation of neutrophils and eosinophils, increase of cytokine expression, and secretion of proteolytic enzymes [1, 5, 10, 11]. Bullous pemphigoid (BP) is a senile chronic autoimmune bullous skin disease with a high relapse rate, which significantly impairs patients’ quality of life and contributes to disease mortality This observational case-control study explores the gene polymorphisms of cytokines and their clinical significance in Chinese patients with BP. Medical profiles of patients, including baseline characteristics and prognosis, were statistically analyzed
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