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Juvenile idiopathic arthritis (JIA) is an umbrella term for all chronic childhood arthropathies and can be divided into seven subtypes. It includes the enthesitis related arthritis (ERA) subtype which displays symptoms similar to ankylosing spondylitis (AS) and juvenile-onset psoriatic arthritis which has similarities to psoriatic arthritis (PsA) and psoriasis (Ps). We, therefore, hypothesized that two well-established susceptibility loci for AS and Ps,  ERAP1  and  IL23R , could also confer susceptibility to these JIA subtypes.    Methods  Single nucleotide polymorphisms (SNPs) in  ERAP1  (rs30187) and  IL23R  (rs11209026) were genotyped in JIA cases (n = 1,054) and healthy controls (n = 5,200). Genotype frequencies were compared between all JIA cases and controls using the Cochrane-Armitage trend test implemented in PLINK. Stratified analysis by ILAR subtype was performed.    Results  The ERA subtype showed strong association with  ERAP1  SNP ( P  trend = 0.005). The  IL23R  SNP showed significant association in the PsA subtype ( P  trend = 0.04). The SNPs were not associated with JIA overall or with any other subtype.    Conclusions  We present evidence for subtype specific association of the  ERAP1  gene with ERA JIA and the  IL23R  gene with juvenile-onset PsA. The findings will require validation in independent JIA datasets. These results suggest distinct pathogenic pathways in these subtypes.

arthritis research and therapy

Subtype specific genetic associations for juvenile idiopathic arthritis: ERAP1 with the enthesitis related arthritis subtype and IL23R with juvenile psoriatic arthritis