Differentially Expressed Genes Between Mild and Severe Patients with Class IV Mutation
A total of 24 genes were demonstrated to be differentially expressed (Table 3). Three of them were up regulated while 21 genes were down regulated in severe sibling (F3-P3) compared to mild siblings (F3-P1 and F3-P2). Although the statistical significance of differentially expressed genes could not be evaluated, pathways were interpreted in terms of biological significance. Among the KEGG pathways that were enriched in WebGestalt analysis, the IL-17 signaling pathway (p=4.48E-09), NOD-like receptor signaling pathway (p=2.75E-07), AGE-RAGE signaling pathway in diabetic complications (p=7.24E-06), cytokine-cytokine receptor interaction (p=1.17E-05), NF-kappa B signaling pathway (p=5.91E-06), TNF signaling pathway (p=1.21E-05), and TLR signaling pathway (p=0.0001) were found to be associated with severity in Class IV.
TABLE 3 The differentially expressed genes in severe patient with Class IV mutation.