A CLEC16A variant confers risk for juvenile idiopathic arthritis and anti-cyclic citrullinated peptide antibody negative rheumatoid arthritis

作者：Skinningsrud Beate^*; Lie Benedicte A; Husebye Eystein S; Kvien Tore K; Forre Oystein; Flato Berit; Stormyr Alice; Joner Geir; Njolstad Pal R; Egeland Thore; Undlien Dag E

来源：Annals of the Rheumatic Diseases, 2010, 69(8): 1471-1474.

DOI：10.1136/ard.2009.114934

Objective Variants in CLEC16A have conferred susceptibility to autoimmune diseases in genomewide association studies. The present work aimed to investigate the locus' involvements in juvenile idiopathic arthritis (JIA) and further explore the association with rheumatoid arthritis (RA), type 1 diabetes (T1D) and Addison's disease (AD) in the Norwegian population.
Methods Three single nucleotide polymorphisms (SNPs) were genotyped in patients with RA (n = 809), JIA (n = 509), T1D (n = 1211) and AD (n = 414) and in healthy controls (n = 2149).
Results All diseases were associated with CLEC16A, but with different SNPs. The intron 22 SNP, rs6498169, was associated with RA (p = 0.006) and JIA (p = 0.016) and the intron 19 SNPs, rs12708716/rs12917716, with T1D (p = 1x10-5) and AD (p = 2x10-4). The RA association was confined to the anti-cyclic citrullinated peptide antibody (anti-CCP) negative subgroup (p = 2x10-4).
Conclusion This is the first report of a CLEC16A association with JIA and a split of the RA association according to anti-CCP status. Different causative variants underlie the rheumatic versus the organ specific diseases.

• 出版日期2010-8
• 单位河北医科大学