Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis

Hinks, A., Eyre, S., Ke, X., Barton, A., Martin, P., Flynn, E., Packham, J., Worthington, J., Thomson, W. and Gardner-Medwin, J. [C. a. B. s. g.] (2010) Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. Genes and Immunity, 11(2), pp. 194-198. (doi: 10.1038/gene.2009.105)

Abstract

Recent genetic studies have led to identification of numerous loci that are associated with susceptibility to autoimmune diseases. The strategy of using information from these studies has facilitated the identification of novel juvenile idiopathic arthritis (JIA) susceptibility loci, specifically, PTPN22 and IL2RA. Several novel autoimmune susceptibility loci have recently been identified, and we hypothesise that single-nucleotide polymorphisms (SNPs) within these genes may also be JIA susceptibility loci. Five SNPs within the genes AFF3, IL2/IL21, IL7R, CTLA4 and CD226, previously associated with multiple autoimmune diseases were genotyped, in a large data set of Caucasian JIA patients and controls, and tested for association with JIA. We identified two susceptibility loci for JIA, AFF3 and the IL2/IL21 region and additional weak evidence supporting an association with the CTLA4 and IL7R genes, which warrant further investigation. All results require validation in independent JIA data sets. Further characterisation of the specific causal variants will be required before functional studies can be performed.

• Item Type: Articles
• Additional Information: Glasgow author is Janet Gardner-Medwin, part of the Childhood Arthritis Prospective Study (CAPS) and the British Society of Paediatric and Adolescent Rheumatology (BSPAR) study group.
• Status: Published
• Refereed: Yes
• Glasgow Author(s) Enlighten ID: Gardner-Medwin, Dr Janet
• Authors: Hinks, A., Eyre, S., Ke, X., Barton, A., Martin, P., Flynn, E., Packham, J., Worthington, J., Thomson, W., and Gardner-Medwin, J. [C. a. B. s. g.]
• Subjects: R Medicine > R Medicine (General); Q Science > QH Natural history > QH426 Genetics
• College/School: College of Medical Veterinary and Life Sciences > School of Medicine, Dentistry & Nursing > Clinical Specialities
• Research Group: Childhood Arthritis Prospective Study
• Journal Name: Genes and Immunity
• Publisher: Macmillan Publishers Limited
• ISSN: 1466-4879
• Published Online: 14 January 2010
• Copyright Holders: Copyright © 2010 Macmillan Publishers Limited
• First Published: First published in Genes and Immunity 11(2):194-198
• Publisher Policy: Reproduced in accordance with the copyright policy of the publisher