Poremećaji genskoga izražaja u bolesnika s juvenilnim seronegativnim spondiloartropatijama [Distinctive gene expression in patients with juvenile seronegative spondyloarthtopathy]
Introduction: Juvenile spondyloarthritis (jSpA) refers to spectrum of unpredictable
inflammatory diseases with overlapping features in children younger than 16 years. There is a
strong association of jSpA with HLA-B27 genotype, but many studies shows that other
genetic factors, of which we have little or no knowledge, plays a role in the development of
jSpA. ----- Patients and methods: In this study participated 45 children with obtained HLA genotype
and diagnosis of jSpA according to ILAR criteria, as well as 11 children with other forms of
JIA and 12 children without diagnosis of inflammatory disease. DNA microarray gene
expression was preformed in 11 patients with jSpA and in 4 participants without diagnosis of
inflammatory disease, along with bioinformatic analysis of retrieved data. Carefully selected
differentially expressed genes where analyzed by qRT-PCR in all participants. ----- Results: Microarray results and bioinformatic analysis revealed 745 differentially expressed
genes involved in various inflammatory processes in jSpA patients, while qRT-PCR analysis
confirmed data universality and specificity. ----- Conclusion: Our findings showed that jSpA is polygenic disease with malfunction in antigen
recognition and activation of immunological response, in migration of inflammatory cells and
in regulation of the immune system. Results of our study can be used for further investigation
of disease patophisiology and new treatment options
