Navigation Links
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 American JIA cases (n=747) and controls (n=1161).

This association with rs2104286 was replicated in a second study cohort of JIA cases from the USA (odds ratio 0.84 95% confidence interval 0.65-1.0, trend p=0.05). There was no significant evidence for heterogeneity between the UK and North American datasets, and meta-analysis of the two cohorts yielded highly significant evidence for association (odds ratio 0.76 95% confidence interval 0.62-0.88, p-value 4.9 x 10-6).

Dr Wendy Thomson of the University of Manchester, UK who led the study, said: "The IL2RA gene has previously been shown to be associated with type 1 diabetes, Graves' disease, rheumatoid arthritis and multiple sclerosis, and so may be linked with a predisposition to autoimmunity in general. Our results have shown that the genetic variants of the IL2RA gene are strongly associated with JIA in two independent cohorts. Further investigation of this gene will aid our understanding of the pathogenesis of these diseases, and hopefully lead to future treatment approaches."

As many as one in 1,000 children has arthritis, most commonly in the form of JIA. The condition causes pain, stiffness and joint swelling, which can impact fine motor skills (e.g. writing), concentration, mood and sleep.


'/>"/>

Contact: Rory Berrie
eularpressoffice@uk.cohnwolfe.com
44-077-892-70392
European League Against Rheumatism
Source:Eurekalert

Related medicine news :

1. Latest research on allergies: Specific immunotherapy can help
2. US Oncology Launches Oncology-Specific Billing and Reimbursement Service
3. NARSAD researchers identify specific genes and family traits linked to mental illnesses
4. University of Tennessee Medical Center Initiates Patient-Specific Medication Management With SinglePointe(TM) Solution From Omnicell
5. Breast-Specific Gamma Imaging (BSGI) Found to Be Highly Sensitive for Early Stage Breast Cancer
6. Regular prostate-specific antigen screening may be discontinued in certain elderly populations
7. Paro, the Worlds Only Robotic Baby Harp Seal - Designed Specifically for Therapy - to be Focus of Industry Event at Vinson Hall Retirement Community in McLean, Va., June 2
8. How embryonic stem cells develop into tissue-specific cells demonstrated
9. Alzheimers Disease Risk Factors May Be Gender-Specific
10. GeneGo Rolls out MetaMiner Cystic Fibrosis - the First Disease-Specific Software Platform to Advance Drug Discovery
11. TFAH Applauds Release of CDCs State-Specific Public Health Emergency Preparedness Report
Post Your Comments:
*Name:
*Comment:
*Email:
(Date:5/26/2016)... ... May 26, 2016 , ... An April Gallup survey found rising health ... employees of Sun Health Senior Living (SHSL) may not share those same ... and prescription copays for the year, while holding the line on increasing their contributions, ...
(Date:5/26/2016)... ... May 26, 2016 , ... Leadership of ... today announced the organization has earned its ISO 13485 certification, indicating the company’s ... with all rules and policies associated with ISO quality standard 13485. , ...
(Date:5/26/2016)... ... ... North Cypress Medical Center hosted its 9th Annual Spring Classic Golf ... of community partners, the event organizers raised $45,000 for the Lone Survivor Foundation ... their families through health, wellness, and therapeutic support. , A special military three-plane ...
(Date:5/26/2016)... ... May 26, 2016 , ... The MIAMI Institute for Age ... speaker Dr. Adonis Maiquez MD, ABAARM. Dr. Adonis , Wellness Physician of the ... a member of the Institute for Functional Medicine. , He also heads up FITTLab, ...
(Date:5/26/2016)... CA (PRWEB) , ... May 26, 2016 , ... ... (also knowns as a bunionette) treatment was more than humbled by customer demand over ... one of their SKU's mid sale. Now that Bunion Bootie has completely replenished its ...
Breaking Medicine News(10 mins):
(Date:5/26/2016)... , May 26, 2016 ... Associated With Both Cost Savings and Overall ... plc (LSE: BTG), an international specialist healthcare company, ... at the 21st Annual Meeting of ISPOR (International ... treatment of hepatocellular carcinoma (HCC) using yttrium-90 glass ...
(Date:5/25/2016)... , May 25,2016 ... the near-infrared Cellvizio platform for urological and surgical ... OTCQX: MKEAY) inventor of Cellvizio®, the multidisciplinary confocal ... regulatory milestone in the US with the 12 ... and Drug Administration (FDA). This new FDA clearance ...
(Date:5/25/2016)... and GERMANTOWN, Maryland , May 25, ... QGEN ; Frankfurt Prime Standard: QIA) today announced that the ... Therawis Diagnostics GmbH to develop and commercialize predictive assays in ... PITX2 as a marker to predict effectiveness of anthracycline treatment ... "We are pleased to partner with Therawis, which developed ...
Breaking Medicine Technology: