Objective: Variants in CLEC16A have conferred susceptibility to autoimmune diseases in genome-wide association studies. We aimed to investigate the locus’ involvement 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 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-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.