Arthritis & Rheumatism, Volume 62,
November 2010 Abstract Supplement

Abstracts of the American College of
Rheumatology/Association of Rheumatology Health Professionals
Annual Scientific Meeting
Atlanta, Georgia November 6-11, 2010.

Rheumatoid Arthritis Susceptibility Loci; PTPRC, PTPN2, IKZF3, c5orf30, BLK and CD247 Are Also Associated with Juvenile Idiopathic Arthritis.

Hinks1,  Anne, Eyre2,  Steve, Martin2,  Paul, Flynn2,  Edward, Packham3,  Jon, Barton2,  Anne, Worthington2,  Jane

Arthritis Research UK Epidemiology Unit, University of Manchester, Manchester, United Kingdom
Arthritis Research UK Epidemiology Unit, University of Manchester
Haywood Hospital, University of North Staffordshire


Rheumatoid arthritis (RA) shares similar clinical and pathological features with juvenile idiopathic arthritis (JIA); indeed the strategy of investigating whether RA susceptibility loci also confer susceptibility to JIA has already proved highly successful in identifying novel JIA loci, such as PTPN22, IL2RA and TRAF1/C5. There has been a plethora of newly validated RA loci reported in the last year. Therefore the aim of this study was to test SNPs robustly associated with RA in a large cohort of JIA cases and controls to investigate the overlap between these diseases and identify novel JIA loci.


29 SNPs that showed validated association with RA and had not been investigated previously in JIA were genotyped in JIA cases (n=1337) and healthy controls (n=2781) using Sequenom MassArray technology. Genotype and allele frequencies were compared between cases with JIA and controls using the Cochrane-Armitage trend test implemented in PLINK and allelic odds ratios (ORs) and their 95% confidence intervals (CIs) calculated.


Strong evidence for association with JIA was seen for eight SNPs. These include a SNP, rs10919563, in PTPRC (ptrend =2.5 × 10-6 OR 0.68 95% CI 0.58–0.8) rs7234029, in PTPN2 (ptrend =0.0003 OR 1.26 95% CI 1.11–1.43), rs2872507 in IKZF3 (ptrend =0.0004 OR 1.21 95% CI 1.09–1.34), rs26232 in c5orf30 (ptrend =0.002 OR 0.84 95% CI 0.75–0.94), rs2736340, in BLK (ptrend =0.003 OR 1.19 95% CI 1.06–1.34) and rs1773560 in CD247 (ptrend =0.005 OR 0.87 95% CI 0.79–0.96). There was additional evidence for association of two novel SNPs in genes previously associated with JIA, rs13119723, in the IL2/IL21 region (ptrend =7.5 × 10-6 OR 0.71 95% CI 0.61–0.83) and rs706778 in the IL2RA gene (ptrend =0.0002 OR 1.22 95% CI 1.1–1.35).


The association of PTPN2 with JIA in the current study validates the findings of a previous US study, confirming it as a JIA locus. The other loci identified are novel and will require validation in independent JIA datasets. To date we have investigated 44 RA loci in JIA and of those 27 are associated with both diseases. The overlap is remarkable for two diseases which, although sharing some phenotypic features, are clinically distinct entities.


Childhood arthritis prospective study (CAPS), UKRAG consortium and BSPAR study group

To cite this abstract, please use the following information:
Hinks, Anne, Eyre, Steve, Martin, Paul, Flynn, Edward, Packham, Jon, Barton, Anne, et al; Rheumatoid Arthritis Susceptibility Loci; PTPRC, PTPN2, IKZF3, c5orf30, BLK and CD247 Are Also Associated with Juvenile Idiopathic Arthritis. [abstract]. Arthritis Rheum 2010;62 Suppl 10 :264
DOI: 10.1002/art.28033

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