rs2358817

This case-control association study of juvenile idiopathic arthritis (JIA) in 809 JIA cases and 3,521 controls identified susceptibility loci shared with other autoimmune diseases. Three novel loci were identified: PTPN2 (strongest signals rs7234029, p=7.19×10⁻¹¹, OR=1.59; rs1893217, p=3.48×10⁻⁸, OR=1.52; rs2542151, p=3.05×10⁻⁷, OR=1.45), COG6 (rs7993214, p=3.98×10⁻³, OR=0.79), and ANGPT1 (rs1010824, p=4.93×10⁻³, OR=0.77). Four previously reported JIA loci were confirmed: PTPN22, STAT4, C12orf30, and IL2-IL21. Odds ratios ranged from 1.20 to 1.65 in meta-analysis of initial and independent replication cohorts (n=1,015 cases and 1,568 controls).

A genome-wide association study (GWAS) identified novel genetic susceptibility loci for juvenile idiopathic arthritis (JIA) in a discovery cohort of 279 cases and 184 controls, followed by validation in 321 cases and 2,024 controls. The most strongly associated SNP (rs2187684) mapped to the HLA region (OR 0.61, p=0.00006), and fine-mapping identified 10 SNPs in the VTCN1 gene associated with JIA, with rs2358820 showing the second strongest association (OR 0.45, p=0.003).