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

被引：46

作者：

Hinks, A. ^{[1
]}

Eyre, S. ^{[1
]}

Ke, X. ^{[1
]}

Barton, A. ^{[1
]}

Martin, P. ^{[1
]}

Flynn, E. ^{[1
]}

Packham, J. ^{[2
]}

Worthington, J. ^{[1
]}

Thomson, W. ^{[1
]}

机构：

[1] Univ Manchester, Arthrit Res Campaign Epidemiol Unit, Manchester M13 9PT, Lancs, England

[2] Univ Hosp N Staffordshire, Haywood Hosp, Stoke On Trent, Staffs, England

来源：

GENES AND IMMUNITY | 2010年 / 11卷 / 02期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

autoimmune; juvenile idiopathic arthritis; CTLA4; AFF3; IL2; LYMPHOID TYROSINE PHOSPHATASE; GENOME-WIDE ASSOCIATION; RHEUMATOID-ARTHRITIS; INTERLEUKIN-7; RECEPTOR; IL2RA/CD25; GENE; LOCUS; SUSCEPTIBILITY; POLYMORPHISMS; DISEASE; RISK;

D O I：

10.1038/gene.2009.105

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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. Genes and Immunity (2010) 11, 194-198; doi: 10.1038/gene.2009.105; published online 14 January 2010

引用

页码：194 / 198

页数：5

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