Adult Onset Still' s Disease biomarker, diagnostic reagent and application thereof

Abstract

The invention discloses a DNA methylation marker of Adult Onset Still' s Disease (AOSD), a diagnostic reagent and application thereof. The DNA methylation marker comprises one or more of six methylation sites: chr11:114167495, chr1:198568084, chr6:35654359, chr6:35654363, chr13:113327910 and chr6:139794538. The invention utilizes specific DNA methylation sites as molecular markers for the first time to conduct auxiliary screening on AOSD patients and healthy people, Rheumatoid Arthritis (RA), Sepsis (Sepsis), drug rash (DrugEruption), and T cell lymphoma (TcellLymphoma) patients, opens up a new way and way for diagnosis in the field, needs few blood samples, is convenient and easy to develop, and has very good application prospects.

Description

technical field [0001] The invention belongs to the technical field of medical molecular biology detection, and in particular relates to a diagnostic marker, a diagnostic reagent and an application thereof for adult Still's disease. [0002] technical background [0003] Adult Onset Still’s Disease (AOSD) is a rare clinical syndrome involving multiple systems throughout the body. At present, the etiology of this disease is still unclear, and its pathogenesis is complex, which is often considered to be affected by factors such as infection, genetics, and immunity. Due to the low incidence of still's disease in adults and the lack of specific clinical features and laboratory test indicators, infection, tumor, connective tissue disease and other diseases must be ruled out before clinical diagnosis. is a huge challenge. Moreover, the process of excluding the diagnosis is long, and the examination items are various, including some invasive examinations, which bring a heavy burde...

AI Technical Summary

Problems solved by technology

[0005] Currently, there is no clinically satisfactory diagnostic marker for AOSD with high sensitivity and high specificity. Although IL-18 has been widely reported, it is not unique to AOSD as a cytokine; Sensitivity and specificity, but it is not unique to AOSD and difficult to carry out; AOSD biomarkers reported by other studies, such as sCD163, AGEs and sRAGE, S100 A8 / A9 and A12, CXCL10, CXCL13, etc., lack multi-institutional verification

Therefore, AOSD patients often need to combine other auxiliary items, including invasive examinations such as bone marrow aspiration and more expensive examinations such as PET-CT, which greatly increases the cost of diagnosis and treatment of the disease and increases the psychological, physical and economic burden of patients.

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