IL18
Genetic findings for IL18 in Adult-Onset Still's Disease
Variants (1)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| Promoter polymorphisms (S01/S01 diplotype); -607 promoter polymorphism | germline | S01/S01 diplotype significantly enriched in AOSD patients; seven SNPs and one 9bp insertion identified | IL-18 gene promoter polymorphisms represent a major genetic risk factor for AOSD susceptibility, correlating with the characteristically elevated IL-18 serum levels |
Clinical implications
Promoter polymorphisms (S01/S01 diplotype); -607 promoter polymorphism
The -607 promoter polymorphism has functional associations with disease course; certain genotypes may be protective against severity and chronic arthritis
Also found in: Systemic JIA (Similar associations reported)
Related hypotheses
Genetic susceptibility via HLA polymorphisms and autoinflammatory gene variants predisposes to AOSD
45emerging·12 studies