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:2/10/2016)... ... February 10, 2016 , ... MetLoop ... revolutionary new 2.0 version at the International Roofing Expo in Orlando, Florida on ... the world's most advanced weather technology in the hands of consumers, roofing contractors, ...
(Date:2/10/2016)... ... February 10, 2016 , ... InDemand Interpreting , a ... partnered with Heart City Health Center to improve access to language ... City Health Center has provided the Elkhart community with access to high quality, ...
(Date:2/10/2016)... ... February 10, 2016 , ... Compliancy Group LLC ... of medical professionals throughout the country. The Guard was specifically designed to handle ... procedures, employee training, regulatory updates, and compliance coaching. , In addition to meeting ...
(Date:2/10/2016)... ... February 10, 2016 , ... Emergency rooms provide emergency care to stabilize critical ... leave patients with dental emergencies at risk of losing a tooth or their smiles. ... , Common dental emergencies include:, , Avulsed or knocked-out ...
(Date:2/10/2016)... ... February 10, 2016 , ... Dr. Peyman ... is now offering a variety of comprehensive procedures for facial enhancement. The treatments ... volume restoration, lip enhancement and nasal reshaping. , As a result, patients ...
Breaking Medicine News(10 mins):
(Date:2/10/2016)... Feb. 10, 2016  LexisNexis® Risk Solutions, a ... announced the launch of LexisNexis Provider Performance ... helps improve and optimize the quality and efficiency ... using severity-adjusted scores. By measuring provider performance through ... to deliver better outcomes, improve the patient experience ...
(Date:2/10/2016)... CORAL SPRINGS, Florida , February 10, 2016 ... Adamas Pharmaceuticals, Inc. (NASDAQ: ADMS ) and Celldex Therapeutics, ... Medivation, Inc. (NASDAQ: MDVN ), Adamas Pharmaceuticals, Inc. (NASDAQ: ... ). --> Today,s latest Orphan Drug Designations become ... granted by the FDA to novel drugs and biologics which ...
(Date:2/10/2016)... , Feb. 10, 2016 /PRNewswire/ - The President ... has announced the release of an anti-radiation product ... a revolutionary breakthrough in the treatment of cancer ... exposure. It will assist in the healing of ... It will also protect only the healthy cells ...
Breaking Medicine Technology: