Overexpression in Sjögren's Syndrome Patients May Be Regulated by rs4932178 SNP in Its Promoter Region and Correlates with Gene Expression.

BACKGROUND

The gene encodes for the protease enzyme Furin, which promotes proteolytic maturation of important regulators of the immune response, and also enhances the secretion of interferon-γ (IFN). Several studies have suggested its possible involvement in the pathogenesis of chronic inflammatory diseases.

METHODS

We investigated the gene expression level in peripheral blood mononuclear cells isolated from Sjögren's Syndrome (SS) patients and healthy controls and we evaluated a possible correlation with gene expression. Moreover, we also explored the variability of two genetic polymorphisms (rs4932178 and rs4702) to evaluate a possible association between these polymorphisms and the expression levels of this gene.

RESULTS

We observed, by RT-qPCR, that the expression level was significantly higher in SS patients compared to the controls ( = 0.028), and we confirmed a positive correlation between and expression levels ( < 0.001). Moreover, we reported that the variant homozygous genotype of rs4932178 SNP is associated with a higher expression of the gene ( = 0.038) and with the SS susceptibility ( = 0.016).

CONCLUSIONS

Our data suggest that Furin could play a role in SS development, also promoting IFN-γ secretion.