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- W7986054 abstract "Patients with systemic Juvenile Idiopathic Arthritis (sJIA) have elevated serum levels ofinflammatory cytokines. Treatment with interleukin-1 (IL-1) receptor antagonist (Anakinra)shows remarkable improvement in some sJIA patients. The hypothesis of this thesis is thatgenetic variations in IL-1 family genes contribute to disease pathogenesis.To investigate this, a two-stage case-control association study of 20 candidate genes wasperformed. Selected tagging SNPs were tested for association in 130 sJIA patients and 146controls in stage-1 of the study. SNPs at significantly different frequencies in the cohortswere genotyped in an additional 105 sJIA patients and 184 controls, and stratified metaanalysisof the two-stage data performed. Analysis was also performed with 4,671 controlsfrom the Wellcome Trust Case Control Consortium (WTCCC).No associations were found with caspase-1, cryopyrin, or IL-18. Significant diseaseassociations were identified with SNPs in the ligand IL1A, the receptor antagonist IL1RN, anda two-SNP haplotype in the IL-18 antagonist IL18BP. Associations were also identified in thedecoy receptor IL1R2, and the co-receptor IL1RAP, although these were not confirmed whenre-analysed with the WTCCC controls. Transient transfection assays with haplotypeconstructs, performed by Dr Wen, showed that the IL18BP haplotype affected genetranscription levels in vitro. This effect was not however reproduced using PBMCs fromhealthy individuals. Allele specific binding to one of the haplotype SNPs was predicted insilico, but no evidence for this was seen in EMSA experiments. Further functional studies arerequired to corroborate involvement of this haplotype in disease.In summary, this study has identified genetic associations for susceptibility to sJIA with anumber of IL1 family members. These results indicate that there may be aberrant control ofIL-1 activity in patients with sJIA. Further work is required to determine how theseassociated SNPs affect IL-1 activity, and thereby the inflammatory response in sJIA." @default.
- W7986054 created "2016-06-24" @default.
- W7986054 creator A5049888989 @default.
- W7986054 date "2011-09-28" @default.
- W7986054 modified "2023-09-26" @default.
- W7986054 title "The interleukin 1 gene family in systemic juvenile idiopathic arthritis" @default.
- W7986054 hasPublicationYear "2011" @default.
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