DNA methylation and transcriptional profiles of IRF5 gene in ankylosing spondylitis: A case-control study

Background: Interferon regulatory factor 5 (IRF5) plays an important role in the inflammation and immune responses, but its association with ankylosing spondylitis (AS) is under investigated. We aimed to examine the association of IRF5 promoter methylation patterns and transcript levels with the susceptibility to AS.

Methods: A total of 60 AS patients and 60 healthy controls were included in this study. We used the bisulfite conversion to detect the DNA methylation pattern of IRF5 promoter in whole blood, and the quantitative real-time PCR (qRT-PCR) to detect the relative mRNA expression level in peripheral blood mononuclear cells (PBMCs).

Results: The overall methylation level of IRF5 promoter was lower in AS patients compared to healthy controls (P < 0.001). The methylation level of IRF5 promoter was negatively correlated with mRNA level (P = 0.005). The results of receiver operating characteristic curve (ROC) showed that the area under the curve (AUC) was 0.810 (P < 0.001), and the sensitivity and specificity were 71.67% and 85.00%, respectively. There were significant differences between the severe dysfunction group and healthy control group, and between the mild dysfunction group and healthy control group (P = 0.006 and P < 0.001, respectively). Only CRP was significantly correlated with mRNA relative level, while the others were not significant.

Conclusion: These findings indicate that IRF5 methylation profile may be involved in the pathological process of AS, and that it may help identify AS patients.