Day TG et al. – Monogenic loci can be used as candidates for investigating the genetic component of complex disease. Preliminary evidence of association between SNPs in autoinflammatory genes and psoriatic juvenile idiopathic arthritis (JIA) is provided suggesting a shared disease mechanism between the hereditary periodic fever syndromes (HPFS) and psoriatic JIA, potentially involving abnormal production of IL-1β. Methods
Study to investigate the association of NLRP3, NOD2, MEFV, and PSTPIP1, genes involved in autoinflammatory HPFS, and JIA
51 SNPs across the 4 loci were investigated in 950 caucasian pts with JIA and 728 ethnically matched healthy controls
Results
Genotype associations between 6 SNPs in MEFV and JIA were observed
Associations between 12 SNPs across all 4 loci and the subgroup of pts with psoriatic JIA were found
2 genotype associations remained significant in the subgroup of pts with psoriatic JIA (MEFV SNP rs224204 and NLRP3 SNP rs3806265)
See all
