Gene
IL18
1 variant(s) documented across Adult-Onset Still's Disease
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| 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 | Systemic JIA (Similar associations reported) |
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
Testing: PCR-RFLP, Direct sequencing, SNP genotyping
Related hypotheses
Genetic susceptibility via HLA polymorphisms and autoinflammatory gene variants predisposes to AOSD
45emerging·12 studies