Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap

Wendy Thomson, UKRAG Consortium, Childhood Arthritis Prospective Study (CAPS), British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group

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Abstract

Objectives: Rheumatoid arthritis (RA) shares some 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. A plethora of newly validated RA loci has been reported in the past year. Therefore, the aim of this study was to investigate these single nucleotide polymorphisms (SNP) to determine if they were also associated with JIA. Methods: Thirty-four SNP that showed validated association with RA and had not been investigated previously in the UK JIA cohort were genotyped in JIA cases (n=1242), healthy controls (n=4281), and data were extracted for approximately 5380 UK Caucasian controls from the Wellcome Trust Case-Control Consortium 2. Genotype and allele frequencies were compared between cases with JIA and controls using PLINK. A replication cohort of 813 JIA cases and 3058 controls from the USA was available for validation of any significant findings. Results: Thirteen SNP showed significant association (p<0.05) with JIA and for all but one the direction of association was the same as in RA. Of the eight loci that were tested, three showed significant association in the US cohort. Conclusions: A novel JIA susceptibility locus was identified, CD247, which represents another JIA susceptibility gene whose protein product is important in T-cell activation and signalling. The authors have also confirmed association of the PTPN2 and IL2RA genes with JIA, both reaching genome-wide significance in the combined analysis.

Original languageEnglish
Pages (from-to)1117-1121
Number of pages5
JournalAnnals of the Rheumatic Diseases
Volume71
Issue number7
DOIs
Publication statusPublished - 31 Jan 2012

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    Thomson, W., UKRAG Consortium, Childhood Arthritis Prospective Study (CAPS), & British Society of Paediatric and Adolescent Rheumatology (BSPAR) Study Group (2012). Investigation of rheumatoid arthritis susceptibility loci in juvenile idiopathic arthritis confirms high degree of overlap. Annals of the Rheumatic Diseases, 71(7), 1117-1121. https://doi.org/10.1136/annrheumdis-2011-200814