Introduction

To the best of our knowledge circulating miRNAs in TRAPS, as well as in other monogenic autoinflammatory disorders have never been investigated.

Objectives

To evaluate circulating microRNAs (miRNAs) levels in patients with tumor necrosis factor-receptor associated periodic syndrome (TRAPS), in comparison to healthy controls, and to correlate their levels to parameters of disease activity and/or disease severity.

Methods

Expression levels of circulating miRNAs were measured by Agilent microarrays in 29 serum samples from 15 TRAPS patients carrying mutations known to be associated with high disease penetrance and 8 healthy controls. Differentially expressed and clinically relevant miRNAs were detected using GeneSpring GX software.

Results

We identified a 6 miRNAs signature able to discriminate TRAPS from healthy controls. Moreover, 4 miRNAs were differentially expressed between patients treated with the interleukin (IL)-1 receptor antagonist anakinra and untreated patients. Of these, miR-92a-3p expression was found to be reduced in untreated patients, while its expression levels were similar to healthy controls in samples obtained during anakinra treatment. MiR-92b levels were inversely correlated with the number of fever attacks/year during the 1st year from the index attack of TRAPS, while miR-377-5p levels were positively correlated with serum amyloid A (SAA) circulating levels.

Conclusion

Serum miRNAs levels show a baseline pattern in TRAPS, and may serve as potential markers of response to therapeutic intervention.