Overlap of disease susceptibility loci for rheumatoid arthritis and juvenile idiopathic arthritis

被引：48

作者：

Hinks, Anne ^{[1
]}

Eyre, Steve ^{[1
]}

Ke, Xiayi ^{[1
]}

Barton, Anne ^{[1
]}

Martin, Paul ^{[1
]}

Flynn, Edward ^{[1
]}

Packham, Jon ^{[2
]}

Worthington, Jane ^{[1
]}

Thomson, Wendy ^{[1
]}

机构：

[1] Univ Manchester, Arc EU, Manchester M13 9PT, Lancs, England

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

来源：

ANNALS OF THE RHEUMATIC DISEASES | 2010年 / 69卷 / 06期

基金：

英国惠康基金; 英国医学研究理事会;

关键词：

GENOME-WIDE ASSOCIATION; AUTOIMMUNE-DISEASES; CELIAC-DISEASE; RISK LOCUS; VARIANTS; REGION; IDENTIFICATION; POPULATION; TRAF1-C5; GENES;

D O I：

10.1136/ard.2009.110650

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Background Genome-wide association studies (GWAS) have been extremely successful in the search for susceptibility risk factors for complex genetic autoimmune diseases. As more studies are published, evidence is emerging of considerable overlap of loci between these diseases. In juvenile idiopathic arthritis (JIA), another complex genetic autoimmune disease, the strategy of using information from autoimmune disease GWAS or candidate gene studies to help in the search for novel JIA susceptibility loci has been successful, with confirmed association with two genes, PTPN22 and IL2RA. Rheumatoid arthritis (RA) is an autoimmune disease that shares similar clinical and pathological features with JIA and, therefore, recently identified confirmed RA susceptibility loci are also excellent JIA candidate loci. Objective To determine the overlap of disease susceptibility loci for RA and JIA. Methods Fifteen single nucleotide polymorphisms (SNPs) at nine RA-associated loci were genotyped in Caucasian patients with JIA (n = 1054) and controls (n = 3531) and tested for association with JIA. Allele and genotype frequencies were compared between cases and controls using the genetic analysis software, PLINK. Results Two JIA susceptibility loci were identified, one of which was a novel JIA association (STAT4) and the second confirmed previously published associations of the TRAF1/C5 locus with JIA. Weak evidence of association of JIA with three additional loci (Chr6q23, KIF5A and PRKCQ) was also obtained, which warrants further investigation. Conclusion All these loci are good candidates in view of the known pathogenesis of JIA, as genes within these regions (TRAF1, STAT4, TNFAIP3, PRKCQ) are known to be involved in T-cell receptor signalling or activation pathways.

引用

页码：1049 / 1053

页数：5

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