hamp promoter hypomethylation and increased hepcidin levels as biomarkers for kawasaki disease kawasaki disease kd is the most common coronary vasculitis to appear in children with anemia and has been associated with elevated plasma hepcidin levels we recruited a total of 241 cases including 18 kd patients who were tested both prior to receiving intravenous immunoglobulin ivig and at least 3weeks after ivig treatment and 18 febrile controls who were observed in the illumina humanmethylation450 beadchip study for their cpg markers the remaining cases consisted of another 92 kd patients and 113 controls that were used for validation by pyrosequencing we performed a genetic functional study using luciferase assays a support vector machine svm classification model was adopted to identify kd patients and control subjects in this study kd patients clearly demonstrated a significantly epigenetic hypomethylation of hamp promoter compared to controls after receiving ivig treatment the hypomethylation status in kd patients was restored and we observed a significant opposite tendency between the dna methylation of target cpg sites cg23677000 and cg04085447 and the hepcidin level furthermore reporter gene assays were used to detect target cpg sites the methylation of which displayed decreased levels of hamp gene expression of particular note we developed a svm classification model with a 909 sensitivity a 919 specificity and 094 auroc in the training set an independent blind cohort also had good performance 961 sensitivity and 897 specificity in this study we demonstrate hamp promoter hypomethylation which upregulates hepcidin expression in kd patients furthermore the reliability and robustness of our svm classification model can accurately serve as kd biomarkers