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Specific mutations in the IL2RA gene associated with juvenile idiopathic arthritis
Date:6/13/2008

Paris, France, Friday 13 June 2008: Certain single nucleotide polymorphisms (SNPs) within the interleukin 2 receptor alpha (IL2RA) gene region are shown to be associated with juvenile idiopathic arthritis (JIA), according to a new study of two independent cohorts presented today at EULAR 2008, the Annual Congress of the European League Against Rheumatism in Paris, France.

In the study, three specific SNPs (small variations in the genetic code), rs2104286, rs41295061 and rs11594656, were investigated as previous studies reported an association of these with rheumatoid arthritis, multiple sclerosis and type 1 diabetes.

The researchers found that one of the SNPs, (rs2104286), was significantly associated with UK cases of JIA (allelic odds ratio = 0.76 95% confidence interval 0.66-0.88, trend p=0.0002), and the association was strongest in a cohort of patients with oligoarthritis, the most common subtype of JIA. This SNP was most strongly associated with female patients and those positive for antinuclear antibodies (see Editors Note). A second SNP (rs41295061), one of two SNPs previously associated with type 1 diabetes, also showed modest evidence for association with JIA (odds ratio 0.80 95% confidence interval 0.63-1.0, trend p=0.05).

In the study, the three SNPs (rs2104286, rs41295061 and rs11594656) were selected for genotyping in UK JIA cases (n=654) and controls (n=3849). Genotype data for SNP rs2104286 for controls was combined with the data for that SNP obtained from a genome-wide association study (WTCCC GWA), giving a total control sample size of 6787. Genotyping was performed using the SEQUENOM iPlex platform. Association analysis was performed using PLINK, a genome data analysis toolset. Stratification into groups in line with the commonly accepted seven categories of JIA (called ILAR subgroups), ANA antibody status and gender was performed. Data for rs2104286 was also available, from a GWA studies of Caucasian North Amer
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Contact: Rory Berrie
eularpressoffice@uk.cohnwolfe.com
44-077-892-70392
European League Against Rheumatism
Source:Eurekalert

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